Mitochondria Phenome Knowledgebase

174 Genes

Gene Ensembl Entrez Aliases Map Position SwissProt ID SwissProt Description Subcellular Locations Subcell PMIDs Protein Complex OMIM Gene OMIM Disease
ACADVL ENSG00000072778 37 ACAD6; LCACD; VLCAD 17p13-p11 P49748 Acyl-CoA dehydrogenase, very-long-chain specific, mitochondrial precursor Mitochondria Mitochondrial-inner-membrane 7668252 609575 VLCAD deficiency [201475]
ACAT1 ENSG00000075239 38 ACAT; MAT; T2; THIL 11q22.3-q23.1 P24752 Acetyl-CoA acetyltransferase, mitochondrial precursor Mitochondria 1979337 607809 Alpha methylacetoacetic aciduria (MAT) [203750]
ACSL4 ENSG00000068366 2182 ACS4; FACL4; LACS4; MRX63; MRX68 Xq22.3-q23 O60488 Long-chain-fatty-acid-CoA ligase 4 Microsome Mitochondria Mitochondrial-outer-membrane Peroxisome 11889465 300157 Mental retardation X linked (MRX63) [300387]
ACSL6 ENSG00000164398 23305 ACS2; FACL6; FLJ16173; KIAA0837; LACS2; LACS5 5q31 Q9UKU0 Long-chain-fatty-acid-CoA ligase 6 Microsome Mitochondria Mitochondrial-outer-membrane Peroxisome 10548543 604443 Acute myelogenous leukemia (AML) with eosinophilia[]; Acute eosinophilic leukemia (AEL) [604443]
AGXT ENSG00000172482 189 AGT; AGT1; AGXT1; PH1; SPAT; SPT; TLH6 2q36-q37 P21549 Serine-pyruvate aminotransferase Mitochondria Mitochondrial-matrix Peroxisome 1703535 604285 Primary hyperoxaluria type I (PH I) [259900]
ALAS2 ENSG00000158578 212 ANH1; ASB; XLSA Xp11.21 P22557 5-aminolevulinic acid synthase, erythroid-specific, mitochondrial precursor Mitochondria Mitochondrial-matrix 10727444 301300 X linked sideroblastic anemia (XLSA) [301300]
ALDH18A1 ENSG00000059573 5832 GSAS; MGC117316; P5CS; PYCS 10q24.3 P54886 Delta 1-pyrroline-5-carboxylate synthetase (P5CS) Mitochondria Mitochondrial-inner-membrane 10037775 15517380 138250 Delta 1 pyrroline 5 carboxylate synthetase deficiency (P5CS) [138250]
ALDH2 ENSG00000111275 217 ALDH-E2; ALDHI; ALDM; MGC1806 12q24.2 P05091 Aldehyde dehydrogenase, mitochondrial precursor Mitochondria Mitochondrial-matrix 7910607 100650 Acute alcohol intolerance (AAI) [100650]; Uterine leiomyoma (UL) [150699]; Involutional osteoporosis [166710]

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