AMACR
Function
Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:10655068, PubMed:11060359, PubMed:7649182). 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 (PubMed:10655068, PubMed:11060359, PubMed:7649182).
Involvement in disease
Alpha-methylacyl-CoA racemase deficiency
AMACRD
A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Congenital bile acid synthesis defect 4
CBAS4
A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; bile acid biosynthesis.
Lipid metabolism; fatty acid metabolism.
Sequence Similarities
Belongs to the CoA-transferase III family.
Cellular localization
- Peroxisome
- Mitochondrion
Alternative names
Alpha-methylacyl-CoA racemase, 2-methylacyl-CoA racemase, AMACR