Mitochondria Phenome Knowledgebase

Subcellular Location Mitochondrial-inner-membrane finds 50 Genes

Gene Ensembl Entrez Aliases Map Position SwissProt ID SwissProt Description Subcellular Locations Subcell PMIDs Protein Complex OMIM Gene OMIM Disease
ABCB7 ENSG00000131269 22 ABC7; ASAT; Atm1p; EST140535 Xq12-q13 O75027 ATP-binding cassette, sub-family B, member 7, mitochondrial precursor Mitochondria Mitochondrial-inner-membrane 9883897 10196363 300135 Sideroblastic anemia and spinocerebellar ataxia (ASAT) [301310]
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]
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]
BCS1L ENSG00000074582 617 BCS; BCS1; FLNMS; GRACILE; Hs.6719; h-BCS 2q33 Q9Y276 H-BCS1 Mitochondria Mitochondrial-inner-membrane 9878253 Respiratory chain complex III (RCCIII); RCCIII assembly 603647 Deficiency of respiratory chain complex III (RCC3) [124000]; Gracile syndrome (FLNMS) [603358]
COX10 ENSG00000006695 1352 - 17p12-p11.2 Q12887 Protoheme IX farnesyltransferase, mitochondrial precursor Mitochondria Mitochondrial-inner-membrane 8078902 Respiratory chain complex IV (RCCIV); RCCIV assembly 602125 Deficiency of respiratory chain complex IV (RCC4) [220110]
COX15 ENSG00000014919 1355 - 10q24 Q7KZN9 Cytochrome c oxidase assembly protein COX15 homolog Mitochondria Mitochondrial-inner-membrane 15235026 Respiratory chain complex IV (RCCIV); RCCIV assembly 603646 Deficiency of respiratory chain complex IV (RCC4) [220110]
CPT2 ENSG00000157184 1376 CPT1; CPTASE 1p32 P23786 Carnitine O-palmitoyltransferase II, mitochondrial precursor Mitochondria Mitochondrial-inner-membrane 10577999 600650 Carnitine O palmitoyltransferase II deficiency (late onset form) [255110]; Carnitine O palmitoyltransferase II deficiency (infantile form) [600649]
CYP11A1 ENSG00000140459 1583 CYP11A; P450SCC 15q23-q24 P05108 Cytochrome P450 11A1, mitochondrial precursor Mitochondria Mitochondrial-inner-membrane 1863359 16038609 118485 Congenital lipoid adrenal hyperplasia (CLAH) [201710]

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