Recombinant Human Alpha-methylacyl-CoA racemase (AMACR)

Uniprot Id

Q9UHK6

Target Species

Human

Target Name

AMACR

Target Full Name

Alpha-methylacyl-CoA racemase

Target Function

Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters. Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs.

Target Involvement

Alpha-methylacyl-CoA racemase deficiency (AMACRD); Congenital bile acid synthesis defect 4 (CBAS4)

Target Subcellular Location

Peroxisome. Mitochondrion.

Target Protein Families

CaiB/BaiF CoA-transferase family

Target Synonyms

2 arylpropionyl CoA epimerase; 2 methylacyl CoA racemase; 2-methylacyl-CoA racemase; Alpha methylacyl CoA racemase; Alpha methylacyl Coenzyme A racemase; Alpha methylacyl-CoA racemase deficiency; included; Alpha-methylacyl-CoA racemase; Amacr; AMACR deficiency; included; AMACR_HUMAN; CBAS4; Da1-8; EC 5.1.99.4; Macr1; Methylacyl CoA racemase alpha; RACE; RM

Target Background

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.