Antibody type
Monoclonal antibodies
Immunogen
Purified recombinant human AMACR(C-terminus) protein fragments expressed in E.coli.
Specificity
This antibody detects endogenous levels of AMACR(C-terminus) and does not cross-react with related proteins.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
wb 1:1000 icc 1:100
Purification process
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
Other name
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;Macr 1;Macr1;Methylacyl CoA racemase alpha;P504S;RACE;RM.
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
