Rabbit anti-Human AMACR Polyclonal Antibody | anti-AMACR antibody
AMACR Antibody, FITC conjugated
NCBI and Uniprot Product Information
NCBI 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]
Uniprot Description
AMACR: Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers. Belongs to the CaiB/BaiF CoA-transferase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 5.1.99.4; Isomerase; Lipid Metabolism - primary bile acid biosynthesis; Mitochondrial
Chromosomal Location of Human Ortholog: 5p13
Cellular Component: cytoplasm; mitochondrion; peroxisomal matrix; peroxisome
Molecular Function: alpha-methylacyl-CoA racemase activity; receptor binding
Biological Process: bile acid biosynthetic process; bile acid metabolic process; fatty acid beta-oxidation using acyl-CoA oxidase
Disease: Alpha-methylacyl-coa Racemase Deficiency; Bile Acid Synthesis Defect, Congenital, 4