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
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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