Synthesized peptide derived from human AMACR AA range: 300-382

The antibody can specifically recognize human AMACR protein.

AMACR

AMACR

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] ,

Catalytic activity: (2S) -2-methylacyl-CoA = (2R) -2-methylacyl-CoA. ,Disease:Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]. AMACRD results in elevated plasma concentrations of pristanic acid C27-bile-acid intermediates. It can be associated with polyneuropathy , retinitis pigmentosa , epilepsy. ,Disease:Defects in AMACR are the cause of congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]; also known as cholestasis , intrahepatic , with defective conversion of trihydroxycoprostanic acid to cholic acid or trihydroxycoprostanic acid in bile. Clinical features include neonatal jaundice , intrahepatic cholestasis , bile duct deficiency and absence of cholic acid from bile. ,Function: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. ,pathway:Lipid metabolism; bile acid biosynthesis. ,pathway:Lipid metabolism; fatty acid metabolism. ,similarity:Belongs to the caiB/baiF CoA-transferase family. ,similarity:Contains 1 C1q domain. ,similarity:Contains 1 collagen-like domain. ,

Cytoplasmic

>>Primary bile acid biosynthesis ;
>>Metabolic pathways ;
>>Peroxisome