产品名称
P504S Rabbit Polyclonal Antibody
别名
Alpha-methylacyl-CoA racemase (EC 5.1.99.4;2-methylacyl-CoA racemase)
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/23600
Human Swissprot No.
Q9UHK6
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9UHK6/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/17117
Mouse Swissprot No.
O09174
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/O09174
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/P70473
免疫原
Synthesized peptide derived from human P504S AA range: 271-320
特异性
This antibody detects endogenous levels of Human,Mouse,Rat P504S
稀释度
WB 1:1000-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Peroxisome . Mitochondrion .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
