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MT000901

UniProt Annotations

Entry Information

Gene Name	alpha-methylacyl-CoA racemase
Protein Entry	AMACR_HUMAN
UniProt ID	Q9UHK6
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHK6-1; Sequence=Displayed; Name=2; Synonyms=IBLi; IsoId=Q9UHK6-2; Sequence=VSP_037321, VSP_037326; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9UHK6-4; Sequence=VSP_037323, VSP_037324; Name=4; IsoId=Q9UHK6-5; Sequence=VSP_044875; Note=Expression is elevated in prostate cancer.;
Catalytic Activity	(2S)-2-methylacyl-CoA = (2R)-2-methylacyl-CoA.
Disease	Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. {ECO:0000269\|PubMed:10655068}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]: A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency. {ECO:0000269\|PubMed:10655068, ECO:0000269\|PubMed:12512044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.
Pathway	Lipid metabolism; bile acid biosynthesis.
Pathway	Lipid metabolism; fatty acid metabolism.
Sequence Caution	Sequence=ACL67853.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=ACL67854.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAB44062.1; Type=Frameshift; Positions=62, 65, 114; Evidence={ECO:0000305};
Similarity	Belongs to the CaiB/BaiF CoA-transferase family. {ECO:0000305}.
Subcellular Location	Peroxisome {ECO:0000269\|PubMed:11060344}. Mitochondrion {ECO:0000269\|PubMed:11060344}.