Mitochondria Phenome Knowledgebase

Subcellular Location Mitochondrial-matrix finds 47 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

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]

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]

AGXT ENSG00000172482 189 AGT; AGT1; AGXT1; PH1; SPAT; SPT; TLH6 2q36-q37 P21549 Serine-pyruvate aminotransferase Mitochondria Mitochondrial-matrix Peroxisome 1703535 604285 Primary hyperoxaluria type I (PH I) [259900]

ALAS2 ENSG00000158578 212 ANH1; ASB; XLSA Xp11.21 P22557 5-aminolevulinic acid synthase, erythroid-specific, mitochondrial precursor Mitochondria Mitochondrial-matrix 10727444 301300 X linked sideroblastic anemia (XLSA) [301300]

ALDH2 ENSG00000111275 217 ALDH-E2; ALDHI; ALDM; MGC1806 12q24.2 P05091 Aldehyde dehydrogenase, mitochondrial precursor Mitochondria Mitochondrial-matrix 7910607 100650 Acute alcohol intolerance (AAI) [100650]; Uterine leiomyoma (UL) [150699]; Involutional osteoporosis [166710]

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Gene	Ensembl	Entrez	Aliases	Map Position	SwissProt ID	SwissProt Description	Subcellular Locations	Subcell PMIDs	OMIM Gene	OMIM Disease
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]
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]
AGXT	ENSG00000172482	189	AGT; AGT1; AGXT1; PH1; SPAT; SPT; TLH6	2q36-q37	P21549	Serine-pyruvate aminotransferase	Mitochondria Mitochondrial-matrix Peroxisome	1703535	604285	Primary hyperoxaluria type I (PH I) [259900]
ALAS2	ENSG00000158578	212	ANH1; ASB; XLSA	Xp11.21	P22557	5-aminolevulinic acid synthase, erythroid-specific, mitochondrial precursor	Mitochondria Mitochondrial-matrix	10727444	301300	X linked sideroblastic anemia (XLSA) [301300]
ALDH2	ENSG00000111275	217	ALDH-E2; ALDHI; ALDM; MGC1806	12q24.2	P05091	Aldehyde dehydrogenase, mitochondrial precursor	Mitochondria Mitochondrial-matrix	7910607	100650	Acute alcohol intolerance (AAI) [100650]; Uterine leiomyoma (UL) [150699]; Involutional osteoporosis [166710]