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FLASH GENE
Symbol AMACR contributors: mct - updated : 11-12-2017
HGNC name alpha-methylacyl-CoA racemase
HGNC id 451
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a peroxisomal targeting domain in the C terminus
  • HOMOLOGY
    interspecies homolog to murine Amacr (77.4pc)
    homolog to rattus Amacr (78.1pc)
    Homologene
    FAMILY
  • caiB/baiF CoA-transferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • converting pristanoyl-CoA and C27 beta acyl-CoA to their (5) stereoisomers
  • essential step for the formation of cholic acid by the normal peroxisomal pathway
  • catalyzes the racemization of the 25-methyl group in C27-intermediates in bile acid synthesis and in methyl-branched fatty acids such as pristanic acid, a metabolite derived from phytol
  • indispensable role of AMACR in detoxification of alpha-methyl-branched fatty acids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    alternative pathway of cholesterol side-chain oxidation
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    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