产品个绍: alpha-methylacyl-CoA racemase(AMACR/P504S) is Prostate-specific antigen (PSA) screening for prostatecancer is now widespread in the United States among men of all ages. However PSA has limited specificity becausebenign disease, including prostatic enlargement and inflammation, can increase PSA levels. Thus, a more specificprostate cancer markers is needed. One such potential marker is AMACR, an enzyme that is involved in peroxisomabeta-oxidation of dietary branched-chain fatty acids. Recent studies have shown that, compared with expression innormal or benign prostate epithelium, AMACR is consistently overexpressed in prostate cancer epithelium, making it aspecific marker for cancer cells within the prostate gland. Furthermore, overexpression of AMACR may increase the riskof prostate cancer because its expression is increased in premalignant lesions (prostatic intraepithelial neoplasia).
Function:
Racemization of 2-methy-branched fatty acid CoA esters. Responsible for the conversion of pristanoy-CoA and C27-bileacyl-CoAs to their (S)-stereoisomers.
Subcellular Location:
Peroxisome.Mitochondrion.
DISEASE:
Alpha-methylacyl-CoA racemase deficiency (AMACRD) MIM:614307): A rare autosomal recessive peroxisomal disordercharacterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates,. and adult onset ofvariable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may includeseizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brainimaging. Note-The disease is caused by mutations affecting the gene represented in this entry.Congenital bile acid synthesis defect 4 (CBAS4) (MIM:2149501: A disorder characterized by the presence oftrihydroxycoprostanic acid in the bile and absence of cholic acid, Patients manifest neonatal jaundice, intrahepaticcho estasis and bile duct deficiency Note-The disease is caused by mutations affecting the gene represented in thisentry.