AMACR, Official Symbol AMACRprovided by HGNC Official Full Name alpha-methylacyl-CoA racemaseprovided by HGNC Primary source HGNC:HGNC:451 See related Ensembl:ENSG00000242110 MIM:604489; AllianceGenome:HGNC:451 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RM; RACE; CBAS4; P504S; AMACRD 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] Expression Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues See more Orthologs mouse all