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
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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