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PTH1R
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.
Protein class
Disease related genes, FDA approved drug targets, G-protein coupled receptors, Human disease related genes, Transporters
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Proximal tubular cells, Sertoli cells, Distal tubular cells, Extravillous trophoblasts)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enriched (RPTEC TERT1)
Interaction
Interacts (via N-terminal extracellular domain) with PTHLH and PTH (PubMed:8397094, 10913300, 18375760, 19674967). Homodimer in the absence of bound ligand. Peptide hormone binding leads to dissociation of the homodimer (PubMed:19674967, 20172855).
Molecular function
G-protein coupled receptor, Receptor, Transducer
More Types Infomation
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- Species Reactivity: Human
- Type: IgG
- Application: ELISA
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- Species Reactivity: Human
- Application: IHC-P, WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: WB, ELISA, FC, ICC, IF, IHC
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IP
-
- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: WB, IHC, ICC, FC, ELISA
-
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: ELISA, WB
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For Research Use Only. Not For Clinical Use.