UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Lipid Metabolism - primary bile acid biosynthesis; EC 5.1.99.4; Isomerase; Mitochondrial Chromosomal Location of Human Ortholog: 5p13 Cellular Component: peroxisomal matrix; mitochondrion; cytoplasm; peroxisome Molecular Function:receptor binding; alpha-methylacyl-CoA racemase activity Biological Process: bile acid biosynthetic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process; cellular lipid metabolic process Disease: Bile Acid Synthesis Defect, Congenital, 4; Alpha-methylacyl-coa Racemase Deficiency |
NCBI 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] |
UniProt Code: | Q9UHK6 |
NCBI GenInfo Identifier: | 313104070 |
NCBI Gene ID: | 23600 |
NCBI Accession: | Q9UHK6.2 |
UniProt Secondary Accession: | Q9UHK6,O43673, Q3KT79, Q96GH1, Q9Y3Q1, A5YM47, B8Y916 B8Y918, F8W9N1, |
UniProt Related Accession: | Q9UHK6 |
Molecular Weight: | 382 |
NCBI Full Name: | Alpha-methylacyl-CoA racemase |
NCBI Synonym Full Names: | alpha-methylacyl-CoA racemase |
NCBI Official Symbol: | AMACR |
NCBI Official Synonym Symbols: | RM; RACE; CBAS4; AMACRD |
NCBI Protein Information: | alpha-methylacyl-CoA racemase; 2-methylacyl-CoA racemase |
UniProt Protein Name: | Alpha-methylacyl-CoA racemase |
UniProt Synonym Protein Names: | 2-methylacyl-CoA racemase |
Protein Family: | Alpha-methylacyl-CoA racemase |
UniProt Gene Name: | AMACR |
UniProt Entry Name: | AMACR_HUMAN |