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
AASS ENSG00000008311 10157 LKR/SDH; LKRSDH; LORSDH 7q31.3 Q9UDR5 Alpha-aminoadipic semialdehyde synthase, mitochondrial precursor (LKR/SDH) Mitochondria 10775527 605113 Hyperlysinemia [238700]; Saccharopinuria [268700]
ABAT ENSG00000183044 18 GABA-AT; GABAT; NPD009 16p13.2 P80404 4-aminobutyrate aminotransferase, mitochondrial precursor Mitochondria Mitochondrial-matrix 9923979 137150 Deficiency of GABA transaminase [137150]; Susceptibility for autism [209850]
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]
ABCD1 ENSG00000101986 215 ABC42; ALD; ALDP; AMN Xq28 P33897 Adrenoleukodystrophy protein (ALDP) Mitochondria-related Peroxisome 12509471 300371 Adrenoleukodystrophy (ALD) [300100]
ACADL ENSG00000115361 33 ACAD4; LCAD 2q34-q35 P28330 Acyl-CoA dehydrogenase, long-chain specific, mitochondrial precursor Mitochondria Mitochondrial-matrix 7551821 609576 LCAD deficiency [201460]
ACADM ENSG00000117054 34 ACAD1; MCAD; MCADH 1p31 P11310 Acyl-CoA dehydrogenase, medium-chain specific, mitochondrial precursor Mitochondria Mitochondrial-matrix 1731887 607008 MCAD deficiency [201450]
ACADS ENSG00000122971 35 ACAD3; SCAD 12q22-qter P16219 Acyl-CoA dehydrogenase, short-chain specific, mitochondrial precursor Mitochondria Mitochondrial-matrix 9582344 606885 SCAD deficiency [201470]
ACADSB ENSG00000196177 36 2-MEBCAD; ACAD7; SBCAD 10q26.13 P45954 Acyl-CoA dehydrogenase, short/branched chain specific, mitochondrial precursor Mitochondria Mitochondrial-matrix 7698750 600301 2 alpha methylbutyryl CoA dehydrogenase deficiency (SBCADD) [610006]

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