Mitochondria Phenome Knowledgebase

174 Genes

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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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Gene	Ensembl	Entrez	Aliases	Map Position	SwissProt ID	SwissProt Description	Subcellular Locations	Subcell PMIDs	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]