Protein Name alpha-methylacyl-CoA racemase
Organism Homo sapiens
Gene ID 23600
Gene Symbol

AMACR

UniProt Q9UHK6 (AMACR_HUMAN)
Relationships Total Number of functionally related compound(s) : 74
Total Number of Articles : 100
Description

alpha-methylacyl-CoA racemase

Gene Summary

This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]

synonyms
  • alpha-methylacyl-CoA racemase
  • 2-methylacyl-CoA racemase
  • AMACRD
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Properties