Molecular weight (DA)
66kD
Immunogen
Synthetic peptide from human protein at AA range: 46-122
Specificity
The antibody detects endogenous Parathyroid hormone/parathyroid hormone-related peptide receptor
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000,IHC-p 1:500-200, ELISA 1:10000-20000. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
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
Gene Name
PTH1R PTHR PTHR1
Protein name
Parathyroid hormone/parathyroid hormone-related peptide receptor
Other name
Parathyroid hormone/parathyroid hormone-related peptide receptor (PTH/PTHrP type I receptor;PTH/PTHr receptor;Parathyroid hormone 1 receptor;PTH1 receptor)
Fields
>>Neuroactive ligand-receptor interaction;>>Parathyroid hormone synthesis, secretion and action;>>Endocrine and other factor-regulated calcium reabsorption
Human protein sequence Database
Q03431
Mouse protein sequence database
P41593
Rat protein sequence database
Cellular localization
Cell membrane ; Multi-pass membrane protein .
Tissue expression
Expressed in most tissues. Most abundant in kidney, bone and liver.
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