Reactive species
Human;Mouse;Rat
Antibody type
Monoclonal antibodies
Protein name
Alpha-methylacyl-CoA racemase
Immunogen
Synthetic Peptide of AMACR
Specificity
The antibody detects endogenous AMCAR/P504S proteins.
Constitute
PBS, pH 7.4, containing 0.5%BSA, 0.02% sodium azide as Preservative and 50% Glycerol.
Dilution rate
WB: 1:1000 IHC: 1:200 IF 1:200
Purification process
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
Other name
AMACR; Alpha-methylacyl-CoA racemase; 2-methylacyl-CoA racemase
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. [provided by RefSeq, Mar 2011],
Function
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.,pa
