Mitochondria Phenome Knowledgebase

Subcellular Location Mitochondria finds 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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