{"symbol":"AMACR","synonyms":["RACE","AMACRD","CBAS4","RM","P504S"],"name":"alpha-methylacyl-CoA racemase","description":"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]","ncbiEntrezGeneId":23600,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/23600","proteins":[{"symbol":"AMACR_HUMAN","href":"/api/1.0/protein/AMACR_HUMAN"}],"hgncRootFamilies":[]}