AMACR

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]

Description

alpha-methylacyl-CoA racemase

Protein family

Enzymes

Chromosome

5:p13.2 (33986283 - 34008220)

Ensembl ID

ENSG00000242110  (ver. 69.37)

Orthologs

Mouse Amacr: ENSMUSG00000022244

Human splice variants
Mouse splice variants