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MITOP human - Genes list |
Gene Code Description Related diseases and alternate gene names - MITOP_D1 Deficiency of complex I Deficiency of complex I ABAT GABT_HUMAN 4-aminobutyrate aminotransferase, mitochondrial precursor (gamma-amino-N-butyr... ABC7 ABC7_HUMAN ATP-binding cassette transporter 7 - human X-linked sideroblastic anemia and ataxia (XLSA/A) ACAA2 S43440 3-oxoacyl-CoA thiolase, mitochondrial - human ACADL A40559 long-chain-acil-CoA dehydrogenase (LCAD) LCAD deficiency ACADM I52240 acil-CoA dehydrogenase precurser, medium-chain-specific MCAD deficiency ACADS A30605 acil-CoA dehydrogenase precursor, short-chain-specific SCAD deficiency ACADSB A55680 short/branched chain acil-CoA dehydrogenase precursor ACADVL ACDB_HUMAN acil-CoA dehydrogenase, very-long-chain-specific-precursor (VLCAD) VLCAD deficiency VLCAD
ACAT1 JH0255 acetyl-CoA C-acetyltransferase 1 precursor, mitochondrial Deficiency of 3-ketothiolase (3KTD) ACAT
T2
THIL
ACO2 Q99798 probable aconitate hydratase, mitochondrial (citrate hydrolyase) (aconitase) (... AFG3L2 Y18314 ATPase family gene 3-like 2 - human AGXT P21549 alanine--glyoxylate aminotransferase AIF AF100928 apoptosis-inducing factor - human AK2 KAD2_HUMAN adenylate kinase isoenzyme 2, mitochondrial (ATP-AMP transphosphorylase) AK3 KIHUA3 nucleoside-triphosphate--adenylate kinase 3 AKAP1 I39173 germ cell kinase anchor S-AKAP84 AKAP84
AKAP84 I39173 A kinase anchor protein - human AKAP1
ALAS1 SYHUAL 5-aminolevulinate synthase 1 precursor ALAS
ALAS2 SYHUAE 5-aminolevulinate synthase 2 X-linked sideroblastic anemia (XLSA) ASB
ALDH2 DEHUE2 aldehyde dehydrogenase (NAD+) 2 precursor, mitochondrial Alcohol intolerance, acute Hs.1230
ALDH4 PUT2_HUMAN Delta-1-pyrroline-5-carboxylate dehydrogenase precursor (P5C dehydrogenase) Hyperprolinemia, type II (HPII) ALDH5 A40872 aldehyde dehydrogenase (NAD+) 5 precursor, mitochondrial AMACR CAB44062 alpha-methylacyl-CoA racemase - human Alpha-methylacyl-CoA racemase deficiency (AMACRD) AMT I54192 glycine cleavage system T-protein precursor (aminomethyltransferase) Non-ketotic hyperglycinemia, type II (NKH2) AOP1 TDXM_HUMAN mitochondrial thioredoxin-dependent peroxide reductase precursor (peroxiredoxi... ARG2 ARG2_HUMAN arginase II precursor (non-hepatic arginase) (kidney type arginase) - human ATP5A1 PWHUA H+-transporting ATP synthase, mitochondrial F1 complex, alpha subunit, isoform... ATP5A2 NNN10 H+-transporting ATP synthase, mitochondrial F1 complex, alpha subunit, isoform... ATP5AL1 NNN08 H+-transporting ATP synthase, mitochondrial F1 complex, alpha subunit, isoform... ATP5AL2 NNN09 H+-transporting ATP synthase, mitochondrial F1 complex, alpha subunit, isoform... ATP5B A33370 H+-transporting ATP synthase, mitochondrial F1 complex, beta chain precursor ATPSB
ATP5BL1 NNN06 H+-transporting ATP synthase, mitochondrial F1 complex, beta polipeptide like ... ATP5BL2 NNN07 H+-transporting ATP synthase, mitochondrial F1 complex, beta polipeptide like ... ATP5C1 A49108 H+-transporting ATP synthase, F1 complex, gamma chain ATP5C2 NNN03 H+-transporting ATP synthase, mitochondrial F1 complex, gamma polipeptide 2 ATP5CL1 NNN04 H+-transporting ATP synthase, mitochondrial F1 complex, gamma polipeptide like... ATP5CL2 NNN05 H+-transporting ATP synthase, mitochondrial F1 complex, gamma polipeptide like... ATP5D S22348 H+-transporting ATP synthase, F1 complex, delta chain precursor ATP5E AF077045 H+-transporting ATP synthase, mitochondrial F1 complex, subunit epsilon ATP5F1 JQ1144 H+-transporting ATP synthase, complex F0, subunit B, isoform 1 ATP5G1 S34066 ATP synthase, mitochondrial F0 complex, chain 9 (subunit c), isoform 1 ATP5G2 S34067 ATP synthase, F0 complex, chain 9 (subunit c), isoform 2 ATP5G3 I38612 ATP synthase, mitochondrial F0 complex, chain 9 (subunit C) isoform 3 ATP5I AB028624 H+-transporting ATP synthase, mitochondrial F0 complex, subunit e ATP5J JT0563 ATP synthase, mitochondrial F0 complex, subunit F6 ATP5O ATPO_HUMAN ATP synthase oligomycin sensitivity conferral protein precursor, mitochondrial... OSCOP
ATP7B S40525 Probable copper transporting P-type ATPase - human Wilson disease (WD) BAX BAXA_HUMAN apoptosis regulator BAX, membrane isoform alpha BCAT2 BCAM_HUMAN thyroid-hormone aminotransferase BCKDHA DEHUXA 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) alpha chain precursor Maple syrup urine disease (MSUD) BCKDHB A37157 3-methyl-2-oxobutanoate dehydrogenase (lipoamide) E1-beta chain precursor Maple syrup urine disease (MSUD) BCL2 D37332 transforming protein (bcl-2-beta) BCL2L1 BCLX_HUMAN BCL2-like 1 - human BCLX
BCS1L AF026849 BCS1 (yeast homolog)-like - human BDH A42845 D-beta-hydroxybutyrate dehydrogenase precursor (3-hydroxybutyrate dehydrogenas... BID BID_HUMAN BH3 interacting domain death agonist (BID) - human BNIP3L NIPL_HUMAN bcl2/adenovirus e1b 19-kda protein-interacting protein 3 like (nip3l)(nip3-lik... BZRP-S A49361 peripheral benzodiazepine receptor-related protein BZRP I38105 peripheral benzodiazepine receptor C14ORF2 68MP_HUMAN 6.8 kDa mitochondrial proteolipid (PRO1574) - human PLPM
CA5 CRHU5 carbonate dehydratase V precursor CACT Y10319 Carnitina-acylcarnitina translocase (CACT) Carnitina-acylcarnitina translocase deficiency CASQ1 A60424 calsequestrin precursor, fast-twitch skeletal muscle CGI-114 T14770 oligoribonuclease, mitochondrial precursor (small fragment nuclease) (CGI-114)... CKMT1 A30789 creatine kinase precursor, mitochondrial CKMT2 A35756 creatine kinase precursor, sarcomere-specific, mitochondrial CLPP S68421 ATP-dependent Clp proteinase chain P CLPX CLPX_HUMAN putative ATP-dependent CLP protease ATP-binding subunit CPLX, mitochondrial pr... COQ7 AF032900 ubiquinone biosynthesis protein COQ7 (CLK1 homologue of c.elegans) - human CLK-1
COX11 COXZ_HUMAN cytochrome c oxidase assembly protein COX11, mitochondrial precursor - human COX15 AF044323 cytochrome c oxidase assembly protein COX15, mitochondrial precursor - human COX17 Q14061 cytochrome c oxidase copper chaperone (COX17 - cytochrome c oxidase assembly p... COX4 OLHU4 cytochrome-c oxidase chain IV precursor COX5A OTHU5A cytochrome-c oxidase chain Va precursor COX5B OTHU5B cytochrome-c oxidase chain Vb precursor COX5BL4 NNN01 cytochrome-c oxidase subunit Vb-like 4 COX6A1 OGHU6L cytochrome-c oxidase chain VIa, hepatic COX6A2 OGHU6A cytochrome-c oxidase chain VIa precursor, cardiac COX6B OGHU6B cytochrome-c oxidase chain VIb COX6C OGHU6C cytochrome-c oxidase chain VIc COX7A1 OSHU7A cytochrome-c oxidase chain VIIa precursor, cardiac and skeletal muscle COX7A2 OSHU7L cytochrome-c oxidase chain VIIa precursor, hepatic COX7B OSHU7B cytochrome-c oxidase chain VIIb - human COX7C OSHU7C cytochrome-c oxidase chain VIIc precursor COX7RP O14548 cytochrome-c oxidase subunit VIIA-related protein, mitochondrial precursor COX8 OSHU8 cytochrome-c oxidase chain VIII precursor CPO I52444 coproporphyrinogen oxidase Hereditary coproporphyria (HCP) CPS1 JQ1348 carbamoyl-phosphate synthase (ammonia) precursor Hyperammonemia, type I CPT1A I59351 carnitina O-palmitoyltransferase I precursor Carnitina O-palmitoyltransferase I deficiency CPT1-L
CPT1B S70579 carnitina O-palmitoyltransferase I, muscle type CPT2 A39018 carnitina O-palmitoyltransferase II precursor Carnitina O-palmitoyltransferase II deficiency CPT1
CRAT A55720 carnitine O-acetyltransferase precursor, mitochondrial Carnitine O-acetyltransferase deficiency CS AF047042 citrate synthase, mitochondrial CYB5 CBHU5 cytochrome b5, microsomal form CYC1 S00680 ubiquinol--cytochrome-c reductase cytochrome c1 precursor Hs.697
CYP11A1 S14367 cholesterol monooxygenase (side-chain-cleaving) cytochrome P450 11A1 (fragment... CYP11A A25922 cholesterol monooxygenase (side-chain-cleaving) cytochrome P450 11A1 precursor... CYP11B1 S11338 steroid 11beta-monooxygenase cytochrome P450 11B1 precursor Adrenal hyperplasia, type IV (AH-IV) CYP11B
CYP11B2 B34181 steroid 11beta-monooxygenase cytochrome P450 11B2 precursor Deficiency of corticosterone methyloxidase, type II (CMO) CYP24 A47436 cytochrome P450-CC24 mitochondrial precursor (vitamin D(3) 24-hydroxylase) CYP27 A39740 sterol 27-monooxygenase cytochrome P450 precursor Cerebrotendinous xanthomatosis (CTX) CYP3 A41581 peptidylprolyl isomerase 3 precursor DBT A32422 dihydrolipoamide S-(2-methylpropanoyl)transferase precursor Maple syrup urine disease (MSUD) DCI A55723 dodecenoyl-CoA Delta-isomerase precursor, mitochondrial DECR S53352 2,4-dienoyl-CoA reductase precursor, mitochondrial Deficiency of 2,4-dienoyl-CoA reductase DFN1 U66035 deafness dystonia protein - human Mohr-Tranebjaerg syndrome (MTS) DGUOK JC6142 deoxyguanosine kinase DHODH PC1219 dihydroorotate oxidase (fragment) DIA1 RDHUB5 cytochrome-b5 reductase DLAT XXHU dihydrolipoamide S-acetyltransferase precursor (fragment) Dihydrolipoamide S-acetyltransferase deficiency;Leigh syndrome DLTA
DLAT_h S25665 dihydrolipoamide S-acetyltransferase heart - human (fragment) DLD DEHULP dihydrolipoamide dehydrogenase precursor Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome DLDH
LAD
DLST PN0673 dihydrolipoamide S-succinyltransferase DMGDH M2GD_HUMAN dimethylglycine dehydrogenase, mitochondrial precursor (ME2GLYDH) - human Dimethylglycine dehydrogenase deficiency (DMGDHD) DUT DUT_HUMAN deoxyuridine 5'-triphosphate nucleotidohydrolase precursor (EC 3.6.1.23) (DUTp... ECGF1 P19971 thymidine phosphorylase precursor (TDRPASE) (platelet-derived endothelial cell... Myoneurogastrointestinal encephalopathy syndrome (MNGIE) ECHS1 ECHM_HUMAN enoyl-CoA hydratase, mitochondrial (short chain enoyl-CoA hydratase (SCEH)) EFE2 TFZ_HUMAN tafazzins protein Barth syndrome EFTS-LSB I84606 mitochondrial elongation factor TS precursor (EF-TS) (fragment) ENDOG NUCG_HUMAN endonuclease G, mitochondrial ETFA A31998 electron transfer flavoprotein alpha chain precursor Glutaric aciduria, type IIa (GAIIa) ETFB S32482 electron transfer flavoprotein beta chain Glutaric aciduria, type IIb (GAIIb) ETFDH Q16134 electron transfer flavoprotein dehydrogenase Glutaric aciduria, type IIc (GAIIc) FACL1 LCFA_HUMAN long-chain-fatty-acid--CoA ligase 1 (palmitoyl-CoA ligase) FACL2 JX0202 long-chain-fatty-acid--CoA ligase 2- human FARS1 AF097441 phenylalanine-tRNA synthetase (FARS1) mRNA, nuclear gene encoding mitochondria... FDX1 AXHU adrenodoxin precursor FDX
FDXR A40487 ferredoxin--NADP+ reductase, long form, precursor FECH A36403 ferrochelatase precursor Erythropoietic protoporphyria (EPP) FH UFHUM fumarate hydratase precursor, mitochondrial Deficiency of fumarate hydratase FPGS A46281 tetrahydrofolylpolyglutamate synthase FRDA1 U43747 Friedreich ataxia 1 Friedreich ataxia 1 GAT AF023466 putative glycine-N-acyltransferase (aralkyl-CoA N-acyltransferase) - human GATM S41734 glycine amidinotransferase precursor GCDH GCDH_HUMAN glutaryl-CoA dehydrogenase precursor (GCD) - human Glutaric aciduria, type I (GA-I) GCK A46157 hexokinase IV, pancreatic beta cell form Diabetes mellitus, type II (NIDDM) HK4
HK4
Hs.1270
Hs.1270
NIDDM
NIDDM
GCSH GCHUH glycine cleavage system protein H precursor Non-ketotic hyperglycinemia, type III (NKH3) GK GLPK_HUMAN glycerol kinase (ATP: glycerol 3 - phosphotransferase) (glycerokinase) (GK) - ... Glycerol kinase deficiency (GKD) GKP2 GKP2_HUMAN glycerol kinase, testis specific 2 (ATP: glycerol 3 - phosphotransferase) (gly... GLDC B39521 glycine dehydrogenase (decarboxylating) precursor; P protein Non-ketotic hyperglycinemia, type I (NKH1) GLUD1 DEHUE glutamate dehydrogenase (NAD(P)+) precursor GLUDP1 A53719 glutamate dehydrogenase (NAD(P)+) 2 precursor GOT2 XNHUDM aspartate transaminase precursor, mitochondrial GPD2 GPDM_HUMAN glycerol-3-phosphate dehydrogenase mitochondrial precursor Diabetes mellitus, type II (NIDDM) GST12 B28083 glutathione transferase, microsomal HADHA JC2108 long-chain-fatty-acid beta-oxidation multienzyme complex alpha chain precursor... Trifunctional enzyme deficiency;Maternal acute fatty liver of pregnancy (AFLP) HADHB JC2109 long-chain-fatty-acid beta-oxidation multienzyme complex beta chain precursor,... Trifunctional enzyme deficiency HCCS G02133 cytochrome c - type heme lyase (holocytochrome-c synthase) human HCS CCHU cytochrome c HHH AF112968 Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome Deficiency of ornithine translocase HIBADH D3HI_HUMAN 3-hydroxyisobutirate dehydrogenase, mitochondrial precursor (HIBADH) - human HK1 A31869 hexokinase I HK2 JC2025 hexokinase II Diabetes mellitus, type II (NIDDM) HLCS BPL1_HUMAN biotin--[methylmalonyl-CoA-carboxyltransferase] ligase / biotin--[propionyl-Co... Biotin-responsive multiple carboxylase deficiency Hs.12357
HMGCL A45470 hydroxymethylglutaryl-CoA lyase Hydroxymethylglutaricaciduria (HMGCL) HMGCS2 S51103 hydroxymethylglutaryl-CoA synthase precursor, mitochondrial HSD3B1 DEHUHS 3-beta hydroxy-5-ene steroid dehydrogenase type I / steroid delta-isomerase (3... Severe depletion of steroid formation HSDB3
HSD3B2 DEHUH2 3-beta hydroxy-5-ene steroid dehydrogenase type II / steroid delta-isomerase (... Congenital adrenal hyperplasia (CAH) HSPA1L B45871 heat shock protein HSP70-Hom HSPA9 B48127 mitochondrial hsp70 precursor GRP75
HSPD1 A32800 heat shock protein 60 precursor GROEL
HSPE1 S47532 heat shock protein 10 CPN10
HTOM34P Q15785 Human putative outer mitochondrial membrane 34 kDa translocase hTOM34 - human HTOM AF026031 putative mitochondrial outer membrane protein import receptor (hTOM) - human Hs.3816 A56650 2-oxoglutarate/malate carrier protein IDH2 S57499 isocitrate dehydrogenase (NADP+) precursor, mitochondrial IDH3A S55282 NAD(H)-specific isocitrate dehydrogenase alpha chain precursor IDH3B IDHB_HUMAN isocitrate dehydrogenase (NAD), mitochondrial subunit beta precursor IDH3G IDHG_HUMAN isocitrate dehydrogenase (NAD), mitochondrial subunit gamma precursor IVD A37033 isovaleryl-CoA dehydrogenase precursor Isovaleric acidemia (IVA) KIAA0016 S66619 Mitochondrial import receptor subunit TOM20 homolog (Mitochondrial 20 kd ourte... TOM20
KIAA0028 SYLM_HUMAN Probable leucyl-tRNA synthetase, mitochondrial precursor (Leucine--tRNA ligase... KIAA0123 Q10713 mitochondrial processing peptidase alpha subunit precursor (alpha-MPP) (P-55) ... KNP-I JC4913 anti-sigma cross-reacting protein homologue I alpha LOC51081 JC7165 mitochondrial ribosomal protein S7 small chain precursor - human LOC51189 JC7175 ATPase inhibitor precursor, mitochondrial - human LOC51629 NP_057100 cgi-69 protein - human LOC56624 NP_063946 mitochondrial ceramidase - human MAOA A36175 amine oxidase (flavin-containing) A Brunner's syndrome MAOB JH0817 amine oxidase (flavin-containing) B MCD DCMC_HUMAN malonyl-CoA decarboxylase - human Malonyl-CoA decarboxylase deficiency (MLYCD) MCSP MCS_HUMAN sperm mitochondrial capsule selenprotein MDH2 MDHM_HUMAN malate dehydrogenase mitochondrial precursor (fragment) ME2.1 S53351 malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) precursor, mitocho... ME2 A39503 malate dehydrogenase (NAD+) precursor, mitochondrial MFT AF283645 folate transporter/carrier, nuclear gene for mitochondrial product - human MIPEP U80034 mitochondrial intermediate peptidase MIP
MLN64 S60682 MLN 64 protein (steroidogenic acute regulatory protein related) - human MMSDH MMSA_HUMAN methylmalonate-semialdehyde dehydrogenase (acylating) (mmsdh) (fragment) - hum... Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) MPO OPHUM myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein - human Myeloperoxidase deficiency (MPOD) MRRF AA085690 mitochondrial ribosome recycling factor 1 - human MTRRF
RRF
MT-ACT48 AF132950 mitochondrial Acyl-CoA Thioesterase - human MTABC3 AF076775 mammalian mitochondrial ABC protein 3 - human MTATP6 PWHU6 H+-transporting ATP synthase protein 6 (subunit A) - mitochondrion (SGC1) Leigh syndrome;Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP);Leber's hereditary opticneuropathy (LHON);Familial bilateral striatal necrosis (FBSN) MTATP8 PWHU8 H+-transporting ATP synthase protein 8 - mitochondrion (SGC1) MTATT NNN20 mitochondrial membrane attachement site - human MTCH1 AF176006 mitochondrial carrier homolog 1 isoform a - human CHI-64
MTCH2 NP_055157 mitochondrial carrier homolog 2 - human MTCO1 ODHU1 cytochrome-c oxidase chain I - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);Alzheimer disease (AD);Myoclonus epilepsy, deafness, ataxia, cognitive impairment and Cox deficiency;Acquired idiopathic sidereoblastic anemia (AISA) MTCO2 OBHU2 cytochrome-c oxidase chain II - mitochondrion (SGC1) Alzheimer disease (AD);Mitochondrial encephalomyopathies MTCO3 OTHU3 cytochrome-c oxidase chain III - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);Progressive encephalopathy (PEM);Mitochondrial encephalomyopathies MTCYB CBHU ubiquinol--cytochrome-c reductase cytochrome b - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);Mitochondrial Myopathy (MM);Parkinsonism/MELAS overlap syndrome COB
MTDLOOP NNN21 mitochondrial displacement loop - human MTERF Y09615 transcription termination factor, mitochondrial MTHFD1 A31903 methylenetetrahydrofolate dehydrogenase (NADP+) / methenyltetrahydrofolate cyc... MTHFD
MTHFD2 DEHUMT methylenetetrahydrofolate dehydrogenase (NAD+) / methenyltetrahydrofolate cycl... MTHSP1 NNN15 mitochondrial major H-strand promotor - human MTHSP2 NNN16 mitochondrial minor H-strand promotor - human MTIF2 A55628 translation initiation factor IF-2 precursor, mitochondrial MTLSP NNN02 mitochondrial L-strand promotor - human MTND1 DNHUN1 NADH dehydrogenase (ubiquinone) chain 1 - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);Alzheimer disease and Parkinson disease (ADPD);Diabetes mellitus, type II (NIDDM) MTND2 DNHUN2 NADH dehydrogenase (ubiquinone) chain 2 - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);Alzheimer disease (AD) MTND3 DNHUN3 NADH dehydrogenase (ubiquinone) chain 3 - mitochondrion (SGC1) MTND4 DNHUN4 NADH dehydrogenase (ubiquinone) chain 4 - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);MELAS;Diabetes mellitus, type II (NIDDM) MTND4L DNHUNL NADH dehydrogenase (ubiquinone) chain 4L - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON) MTND5 DNHUN5 NADH dehydrogenase (ubiquinone) chain 5 - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);MELAS MTND6 DEHUN6 NADH dehydrogenase (ubiquinone) chain 6 - mitochondrion (SGC1) Leber's hereditary optic neuropathy (LHON);LHON with dystonia (LDYT) MTOLR NNN19 mitochondrial light strand origin of replication - human MTRF1 RF1M_HUMAN mitochondrial translational release factor 1 - human MTTRF1
MTRNR1 12s_rRNA mitochondrial ribosomal RNA, 12S Aminoglycoside-induced deafness;Nonsyndromic deafness MTRNR2 16S_rRNA mitochondrial ribosomal RNA, 16S Chloramphenicol resistance;Alzheimer disease and Parkinson disease (ADPD) MTRNR3 NNN17 mitochondrial 5S-like sequence - human MTTA tAla mitochondrial transfer RNA alanine Chronic tubulointerstitial nephropathy MTTC tCys mitochondrial transfer RNA cysteine Mitochondrial myopathy (MM) MTTD tAsp mitochondrial transfer RNA aspartic acid MTTE tGlu mitochondrial transfer RNA glutamic acid Myopathy and diabetes mellitus (MDM) MTTER NNN18 mitochondrial transcription terminator site - human MTTF tPhe mitochondrial transfer RNA phenylalanine MELAS MTTFH NNN13 mitochondrial transcription factor binding site H MTTFL NNN14 mitochondrial transcription factor binding site L MTTFX NNN12 mitochondrial transcription factor binding site X MTTFY NNN11 mitochondrial transcription factor binding site Y MTTG tGly mitochondrial transfer RNA glycine Hypertrophic cardiomyopathy;Progressive encephalopathy (PEM) MTTH tHis mitochondrial transfer RNA histidine MTTI tIle mitochondrial transfer RNA isoleucine Fatal infantile hypertrophic cardiomyopathy (FIHC) MTTK tLys mitochondrial transfer RNA lysine MERRF;Cardiomyopathy and deafness;Myoneurogastrointestinal encephalopathy syndrome (MNGIE);Diabetes mellitus-deafness syndrome (DMDF) MTTL1 tLeu_a mitochondrial transfer RNA leucine 1 MELAS;MERRF/MELAS overlap syndrome;Mitochondrial myopathy (MM);Diabetes mellitus-deafness syndrome (DMDF);Pediatric MMC;Adult MMC;Deafness;Maternally inherited diabetes mellitus;Chronic progressive external ophthalmoplegia (CPEO) MTTL2 tLeu_b mitochondrial transfer RNA leucine 2 CPEO plus;Mitochondrial myopathy (MM) MTTM tMet mitochondrial transfer RNA methionine Mitochondrial myopathy (MM) MTTN tAsn mitochondrial transfer RNA asparagine Chronic progressive external ophthalmoplegia (CPEO) MTTP tPro mitochondrial transfer RNA proline Mitochondrial myopathy (MM) MTTQ tGln mitochondrial transfer RNA glutamine Alzheimer disease and Parkinson disease (ADPD) MTTR tArg mitochondrial transfer RNA arginine MTTS1 tSer_1 mitochondrial transfer RNA serine 1 MERRF/MELAS overlap syndrome;Ataxia, myoclonus and deafness (AMDF);Deafness;Myoclonus epilepsy, deafness, ataxia, cognitive impairment and Cox deficiency;MM with RRF MTTS2 t_Ser2 mitochondrial transfer RNA serine 2 Diabetes mellitus-deafness syndrome (DMDF);Sensorineural hearing loss and retinitis pigmentosa (DFRP) MTTT tThr mitochondrial transfer RNA threonine Lethal infantile mitochondrial myopathy (LIMM); Mitochondrial myopathy (MM) MTTV tVal mitochondrial transfer RNA valine Ataxia, progressive seizures, mental detorioration, and hearing loss MTTW tTrp mitochondrial transfer RNA tryptophan Dementia and chorea (DEMCHO) MTTY tTyr mitochondrial transfer RNA tyrosine MTX1 MTXN_HUMAN metaxin 1 - human MTX2 AAC25105 metaxin 2 - human MUT S40622 methylmalonyl-CoA mutase precursror (MCM) Methylmalonic acidemia (MUT-, MUT0 type) MUTYH U63329 mutY (E. coli) homolog - human NDUFA10 O95299 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42KD) NDUFA1 O15239 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (7.5kD, MWFE) NDUFA2 O43678 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8) NDUFA3 O95167 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9KD,B9) NDUFA4 NUML_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD) NDUFA5 NUFM_Human NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD) NDUFA6 P56556 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14) NDUFA7 AAD05427 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a) NDUFA8 NUPM_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19KD,PGIV) NDUFAB1 T00741 acil carrier protein, mitochondrial precursor (ACP) (NADH dehydrogenase (ubiqu... NDUFB10 O96000 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22KD,PDSW) NDUFB1 O75438 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7KD,MNLL) NDUFB2 AAD05428 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8KD,AGGG) NDUFB3 O43676 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12KD,B12) NDUFB4 O95168 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15KD,B15) NDUFB5 O43674 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16KD,SGDH) NDUFB6 O95139 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17KD,B17) NDUFB7 NB8M_HUMAN NADH dehydrogenase (ubiquinone) B18 subunit (Complex I-B18) (CI-B18) (Cell adh... NDUFB8 JE0382 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI) NDUFB9 S82655 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD) B22
NDUFC1 O43677 NADH dehydrogenase (ubiquinone) KFY1 subunit precursor (CI-KFYI) NDUFC2 O95298 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5KD,B14.5b) NDUFS1 S17854 NADH dehydrogenase (ubiquinone) 75K chain precursor NDUFS2 JE0193 NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49KD) (NADH-coenzym Q reductas... NDUFS2L NUEM_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39KD) NDUFS3 O75489 NADH dehydrogenase (ubiquinone) 30K chain precursor NDUFS4 NUYM_HUMAN NADH dehydrogenase (ubiquinone) 18kD (AQDQ) subunit NDUFS5 O43920 NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15KD) (NADH-coenzyme Q reducta... NDUFS6 O75380 NADH dehydrogenase (ubiquinone) 13 KD-A subunit precursor (complex I-13KD-A) (... NDUFS7 O75251 NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (PSST subunit) fragment Leigh syndrome NDUFS8 NUIM_HUMAN NADH dehydrogenase (ubiquinone) 23kD subunit precursor Leigh syndrome NDUFV1 A44362 NADH dehydrogenase (ubiquinone) 51K chain precursor (fragment) Alexander disease;Leigh syndrome NDUFV2 A30113 NADH dehydrogenase (ubiquinone) 24K chain precursor NDUFV3 NUOM_HUMAN NADH dehydrogenase (ubiquinone) 9 kD subunit precursor (complex I-9KD) (CI-9KD... NIFS AAD09187 cysteine desulfurase (homolog of nitrogen-fixing bacteria) - human NME4 NDKM_HUMAN nucleosid diphosphate kinase (NDP kinase) - human NNT-PEN G02257 NAD(P)+ transhydrogenase (B-specific) precursor, mitochondrial - human NOC4 NP_006058 neighbor of COX4 (NOC4) - human NRF1 A54868 nuclear respiratory factor 1 NTHL1 AB001575 endonuclease III (E. coli) homolog - human NTH1
OAT XNHUO ornithine--oxo-acid transaminase precursor Ornithinemia with gyrate atrofia (GA) OGDH A38234 oxoglutarate dehydrogenase (lipoamide) precursor Deficiency of alpha-ketoglutarate dehydrogenase OGG1 U96710 8-oxoguanine DNA glycosylase - human OIAS A91013 (2'-5')oligoadenylate synthetase E16 OPA1 T00336 Optic atrofia 1 protein, KIAA0567 - human Optic atrofia (OPA1) OTC OWHU ornithine carbamoyltransferase precursor Hyperammonemia, type II OXA1L I38079 OXA1 homolog - human OXCT SCOT_HUMAN Succinyl-CoA:3-ketoacid-coenzyme A transferase precursor (succinyl CoA:3-oxoac... Deficiency of Succinyl-CoA:3-oxoacid-CoA transferase P43-LSB I53499 mitochondrial elongation factor-like protein P43 P69 A42665 P69 2-5A synthase I P71 B42665 P69 2-5A synthase II PC JC2460 pyruvate carboxylase precursor Deficiency of pyruvate carboxylase, type I and II PCCA A27883 propionyl-CoA carboxylase alpha chain precursor Propionic acidemia, type I (PA-1) PCCB A53020 propionyl-CoA carboxylase beta chain precursor Propionic acidemia, type II (PA-2) PCK2 S69546 phosphoenolpyruvate carboxykinase (GTP) precursor, mitochondrial Hypoglycemia and liver impairment PDHA1 DEHUPA pyruvate dehydrogenase (lipoamide) alpha chain precursor Pyruvate dehydrogenase deficiency;Leigh syndrome PDHA2 DEHUPT pyruvate dehydrogenase (lipoamide) alpha chain precursor, testis-specific (E1)... PDHB DEHUPB pyruvate dehydrogenase (lipoamide) beta chain precursor Pyruvate dehydrogenase deficiency;Leigh syndrome PDK1 I55465 pyruvate dehydrogenase kinase isoform 1 - human PDK2 I70159 pyruvate dehydrogenase kinase isoform 2 - human PDK3 I70160 pyruvate dehydrogenase kinase isoform 3 - human PDK4 Q16654 pyruvate dehydrogenase kinase isoform 4 - human PDX1 U82328 pyruvate dehydrogenase complex protein X subunit precursor Pyruvate dehydrogenase deficiency PEMT PEMT_HUMAN phosphatidylethanolamine N-methyltransferase (PEMT) - human PEMT2
PET112L GATB_HUMAN probable glutamyl-tRNA(gln) amidotransferase subunit b, mitochondrial precurso... PHC A53737 phosphate carrier isoform A (alternatively spliced, exon IIIA) PLA2G1B PSHU phospholipase A2 precursor group IB, pancreatic PLA2
PPLA2
PLA2G2A PSHUYF phospholipase A2, group IIA, platelet, synovial fluid PLA2L
PLA2G4 A39329 phospholipase A2, cytosolic, group IV PLA2G5 U03090 phospholipase A2, group V - human PMPCB O75439 mitochondrial processing peptidase beta subunit precursor (beta-MPP) (P-52) PNUTL2 AF176379 ARTS protein (PNUTL2) - human POLG2 U94703 mitochondrial DNA polymerase accessory subunit - human POLG G02750 DNA polymerase gamma (mitochondrial DNA polymerase catalytic subunit) Hs.14362
POLRMT HSU75370 mitochondrial RNA polymerase (DNA directed) PPOX PPOX_HUMAN protoporphyrinogen oxidase (PPO) Porphyria variegata (VP) PRAX-1 AF039571 benzodiazepine receptor-associated protein 1 - human PRDX5 AAF03750 Peroxiredoxin 5 (antioxidant enzyme B166) - human ACR1
AOEB166
PMP20
PRXV
PRSS15 S42366 Lon proteinase homolog LON-PEN
LON
PSORT AAC05748 putative mitochondrial space protein 32.1 - human PYCR1 A41770 pyrroline-5-carboxylate reductase P5C
RMRP HSMRP RNA component of mitochondrial RNA processing endoribonuclease RPL23L RL23_HUMAN mitochondrial 60S ribosomal protein L23 - human RPL23
RPL3 R5HUL3 ribosomal protein L3 precursor, mitochondrial RPML12 RM12_HUMAN mitochondrial 60S ribosomal protein L7/L12 precursor RPML19 RLX1_HUMAN mitochondrial 60S ribosomal protein L19 - human KIAA0104
RPML37 AAF36155 mitochondrial ribosomal protein L37 (MRPL37) - human RPML3 R5HUL3 ribosomal protein L3 precursor, mitochondrial RPMS12 RT12_HUMAN mitochondrial 40S ribosomal protein S12 precursor SCHAD JC4879 3-hydroxyacyl-CoA dehydrogenase, short chain-specific, precursor SCO2 AL021683 SCO2 homolog of S. cerevisiae - human Fatal infantile cardioencephalomyopathy due to Cox deficiency SCP2 B40407 sterol carrier protein 2-related form, 58.85K SDH1 A34045 succinate dehydrogenase (ubiquinone) 27K iron-sulfur protein precursor, mitoch... IP
SDH
SDH2 JX0336 succinate dehydrogenase (ubiquinone) flavoprotein precursor, mitochondrial Leigh syndrome;Deficiency of succinate dehydrogenase SDHC D49737 succinate dehydrogenase (ubiquinone) cytochrome b large subunit precursor (CYB... Hereditary paraganglioma, type III (PGL3) SDHD DHSD_HUMAN succinate dehydrogenase (ubiquinone) cytochrome b small subunit precursor (CYB... Hereditary paraganglioma, type I (PGL1) SHMT2 B46746 glycine hydroxymethyltransferase precursor, mitochondrial (fragment) SLC1A1 EAT2_HUMAN solute carrier family1 (neuronal/epithelial high affinity glutamate transporte... EAAC1
SLC1A3 JC2084 solute carrier family 1 (glial high affinity glutamate transporter member 3) (... SLC20A3 TXTP_HUMAN tricarboxylate transport protein precursor (citrate transport protein) (CTP) SLC25A12 Y14494 mitochondrial carrier protein aralar 1 - human SLC25A13 NP_055066 mitochondrial carrier protein aralar 2 - human Citrullinemia, type II (CTLN2) CTLN2
SLC25A14 O95258 brian mitochondrial carrier protein-1 (BMCP1) SLC25A16 A40141 mitochondrial solute carrier protein homolog GDA
GT
ML7
SLC25A18 AY008285 solute carrier SLC25A18, nuclear gene for mitochondrial product - human SLC25A4 A44778 ADP,ATP carrier protein T1 Chronic progressive external ophthalmoplegia, type III (CPEO3);Mitochondrial myopathy and cardiomyopathy (MiMyCa) ANT1
SLC25A5 A29132 ADP,ATP carrier protein ANT2
T3
SLC25A6 S03894 ADP,ATP carrier protein T2 ANT3
SLC9A6 Q92581 sodium/hydrogen exchanger 6 (Na(+)H(+) exchanger 6) (NHE-6) KIAA0267
SMAC NP_063940 second mitochondria-derived activator of caspase (SMAC) - human SOD2 DSHUN superoxide dismutase (Mn) precursor SPG7 Y16610 Paraplegin - human Hereditary spastic paraplegia (HSP) SSBP JN0568 single-stranded mitochondrial DNA-binding protein precursor STAR I38896 steroidogenic acute regulatory protein Congenital lipoid adrenal hyperplasia SUCLA2 AF058953 succinyl-CoA ligase (ADP_forming), beta-chain precursor - human SUCLG1 P53597 succinyl-CoA ligase (GDP_forming), alpha-chain precursor (fragment) - human SUCLG2 T08812 succinyl-CoA ligase (GDP_forming), beta-chain precursor - human SUOX S55874 sulfite oxidase precursor, mitochondrial Sulfocysteinuria SUPV3L1 S63453 putative ATP-dependent mitochondrial RNA-helicase (suppressor of var1 (S.cerev... SURF1 S57749 Surfeit locus protein 1 - human Leigh syndrome SerRSmt AB029948 mitochondrial seryl-tRNA synthetase (cDNA FLJ20450 FIS, CLONE KAT05607) - huma... SERS
mtSerRS
TAT S10887 tyrosine transaminase (EC 2.6.1.5) - human Tyrosine transaminase deficiency, type II (Richner-Hanhart syndrome) TCF6L1 JC1496 transcription factor 1 precursor, mitochondrial TCF6L3 M62810 transcription factor 6-like 3 (mitochondrial transcription factor 1-like) TFAM X64269 mitochondrial transcription factor A (transcription factor 6) - human TID1 TID1_HUMAN tumorous imaginal discs homolog precursor (HTID-1) - human TIM17 IM17_HUMAN translocase of inner mitochondrial membrane 17 (yeast) homolog A - human TIM17B NP_005825 translocase of inner mitochondrial membrane 17 (yeast) homolog B - human TIM23 AF030162 inner mitochondrial membrane translocase TIM23 - human TIM44 IM44_HUMAN translocase of inner mitochondrial membrane 44 - human TK2 KIHUT thymidine kinase, mitochondrial - human TPO OPHUIT iodide peroxidase (EC 1.11.1.8) precursor, thyroid - human Iodide peroxidase deficiency (IPD) TR THI2_HUMAN mitochondrial thioredoxin reductase - human TR3
TST ROHU thiosulfate sulfurtransferase TUFM S62767 translation elongation factor Tu precursor UCP1 A60793 uncoupling protein, mitochondrial - human UCP2 UCP2_HUMAN uncoupling protein 2, mitochondrial UCP3 JC5522 uncoupling protein 3, mitochondrial UCP4 UCP4_HUMAN uncoupling protein 4, mitochondrial - human UNG A60472 uracil-DNA glycosylase precursor DGU
UDG
UQCRB A32450 ubiquinone-binding protein QP-C UQBP
UQCRC1 A48043 ubiquinol--cytochrome-c reductase core I protein UQCRC2 A32629 ubiquinol--cytochrome-c reductase core protein II UQCRFS1 UCRI_HUMAN ubiquinol--cytochrome-c reductase iron-sulfur subunit precursor (rieske iron-s... Mitochondrial myopathy (MM) UQCRH S00219 ubiquinol--cytochrome-c reductase 11K protein precursor UROS A40483 uroporphyrinogen-III synthase - human VDAC1 MMHUP3 voltage-dependent anion channel 1 VDAC2 B44422 voltage-dependent anion channel 2 (outer mitochondrial membrane protein porin)... VDAC3 S59547 voltage-dependent anion channel 3 (outer mitochondrial membrane protein porin)... VDAC4 Q36732 voltage-dependent anion channel 4 (outer mitochondrial membrane protein porin)... WARS2 AA227572 tryptophanyl-tRNA synthetase 2 (mitochondrial) - human WFS Y18064 Diabetes mellitus and insipidus with optic atrofia and deafness DIDMOAD YME1L1 AJ132637 ATP-dependent metalloprotease YME1 (S.cerevisiae)-like 1 - human YWHAE 143E_HUMAN 14-3-3 protein epsilon (mitochondrial import stimulation factor L subunit) (pr... YWHAZ PSHUAM phospholipase A2 (acil-enzyme intermediate-forming)
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