AMACR

Also known as AMACRD, CBAS4, RACE, RM, alpha-methylacyl-CoA racemase, P504S

protein-coding gene in the species Homo sapiens

Gene data

AMACR

Name: alpha-methylacyl-CoA racemase
Type: protein-coding
Position: 33,986,165–34,010,219 (−)
Aliases: AMACRD, CBAS4, P504S, RACE, RM
Ensembl: ENSG00000242110
RefSeq RNA: NM_001167595.2, NM_001167596.1, NM_001167597.1, NM_001167598.1, NM_014324.6
RefSeq protein: NP_001161067.1, NP_055139.4, NP_976316.1

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].