MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP004717

UniProt Annotations

Entry Information
Gene Namealpha-methylacyl-CoA racemase
Protein EntryAMACR_HUMAN
UniProt IDQ9UHK6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=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.
DiseaseAlpha-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.
DiseaseCongenital 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.
FunctionRacemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers.
PathwayLipid metabolism; bile acid biosynthesis.
PathwayLipid metabolism; fatty acid metabolism.
Sequence CautionSequence=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};
SimilarityBelongs to the CaiB/BaiF CoA-transferase family. {ECO:0000305}.
Subcellular LocationPeroxisome {ECO:0000269|PubMed:11060344}. Mitochondrion {ECO:0000269|PubMed:11060344}.
  logo