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FLASH GENE
Symbol AMACR contributors: mct - updated : 11-12-2017
HGNC name alpha-methylacyl-CoA racemase
HGNC id 451
ASSOCIATED DISORDERS
corresponding disease(s) AMACRD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional        
variant with a deletion in exon 5 overexpressed in prostate carcinoma
tumoral somatic mutation      
a double deletion of CG3 and CG10 in CpG island within the promoter leads to deregulation in colon carcinomas (Zhang 2009)
constitutional        
deletion of CG12-16 also involved in deregulation in colon carcinomas (Zhang)
tumoral     --over  
highly expressed in high grade dysplasia lesions of the stomach and in the intestinal-type adenocarcinoma (Huang 2008)
         
marker for dysplasia in Barrett's esophagus (Scheil-Bertram 2008)
tumoral     --over  
in prostatic carcinoma
tumoral     --over  
in myxofibrosarcomas can be amplification-driven, associated with tumor aggressiveness, and may be relevant as a druggable target
tumoral     --over  
strong AMACR expression is associated with an increased risk of neoplastic progression in Barrett oesophagus (BO)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • well-characterized marker extensively utilized in prostate cancer (PCA) diagnosis
  • might be a potential prognostic marker for predicting early recurrence/metastasis of hepatocellular carcinoma (HCC) after hepatectomy
  • Therapy target
    ANIMAL & CELL MODELS
  • Amacr-deficient mice are clinically symptomless on a standard laboratory diet, but failed to thrive when fed phytol-enriched chow
  • intestinal cholesterol absorption in Amacr-/- mice is decreased resulting in a 2-fold increase in daily cholesterol excretion