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
ALDH4A1 ENSG00000159423 8659 ALDH4; P5CD; P5CDh; P5CDhL; P5CDhS 1p36 P30038 Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial precursor Mitochondria Mitochondrial-matrix 8621661 606811 Hyperprolinemia type II (HP II) [239510]
ALDH5A1 ENSG00000112294 7915 SSADH; SSDH 6p22.2-p22.3 P51649 Succinate semialdehyde dehydrogenase, mitochondrial precursor Mitochondria 12527414 610045 Succinic semialdehyde dehydrogenase deficiency (SSADH) [271980]
ALDH6A1 ENSG00000119711 4329 MGC40271; MMSADHA; MMSDH 14q24.3 Q02252 Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial precursor Mitochondria 1527093 603178 Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [603178]
AMACR ENSG00000082196 23600 RACE 5p13 Q9UHK6 Alpha-methylacyl-CoA racemase Mitochondria Peroxisome 7649182 10770938 11060359 604489 Prostate cancer [176807]; Alpha methylacyl CoA racemase deficiency (AMACRD) [604489]
AMT ENSG00000145020 275 GCE; GCST; NKH 3p21.2-p21.1 P48728 Aminomethyltransferase, mitochondrial precursor Mitochondria 8188235 Glycine cleavage system complex (GCC) 238310 Glycine encephalopathy (GCE) [605899]
ATP7B ENSG00000123191 540 PWD; WC1; WD; WND 13q14.3 P35670 Copper-transporting ATPase 2 Cytoplasm Golgi-apparatus Membrane Mitochondria 9600907 606882 Wilson disease (WD) [277900]
ATPAF2 ENSG00000171953 91647 ATP12; ATP12p; LP3663; MGC29736 17p11.2 Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 Mitochondria 14757859 Respiratory chain complex V (RCCV); RCCV assembly 608918 ATPAF2 deficiency [604273]
AUH ENSG00000148090 549 - 9q22.31 Q13825 Methylglutaconyl-CoA hydratase, mitochondrial precursor Mitochondria 12434311 600529 3 methylglutaconic aciduria type I (MGAI) [250950]

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