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研究背景
AMACR (alpha-methylacyl-CoA racemase) has been recently described as prostate cancer-specific gene that encodes a protein involved in the beta-oxidation of branched chain fatty acids. Expression of AMACR protein is found in prostatic adenocarcinoma but not in benign prostatic tissue. It stains premalignant lesions of prostate: high-grade prostatic intraepithelial neoplasia (PIN) and atypical adenomatous hyperplasia. AMACR can be used as a positive marker for PIN. Defects in AMACR are the cause of congenital bile acid synthesis defect type 4 (CBAS4); also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid or trihydroxycoprostanic acid in bile. Clinical features include neonatal jaundice, intrahepatic cholestasis, bile duct deficiency and absence of cholic acid from bile.
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