基因名称(Gene Name)
PTH1R PTHR PTHR1
蛋白名称
Parathyroid hormone/parathyroid hormone-related peptide receptor
免疫原
Synthetic peptide from human protein at AA range: 46-122
特异性
The antibody detects endogenous Parathyroid hormone/parathyroid hormone-related peptide receptor
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
稀释比例
WB 1:500-2000,IHC-p 1:500-200, ELISA 1:10000-20000. IF 1:50-200
纯化工艺
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
Parathyroid hormone/parathyroid hormone-related peptide receptor (PTH/PTHrP type I receptor;PTH/PTHr receptor;Parathyroid hormone 1 receptor;PTH1 receptor)
背景
The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010],
功能
disease:Defects in PTH1R are a cause of primary failure of tooth eruption (PFE) [MIM:125350]. PFE is a rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption.,disease:Defects in PTH1R are the cause of chondrodysplasia Blomstrand type (BOCD) [MIM:215045]. BOCD is a severe skeletal dysplasia.,disease:Defects in PTH1R are the cause of Eiken syndrome [MIM:600002]; also called Eiken skeletal dysplasia or bone modeling defect of hands and feet. Eiken syndrome is a rare familial autosomal recessive skeletal dysplasia. It is characterized by multiple epiphyseal dysplasia, with extremely retarded ossification, pri
