PTH1R sirna
PTH1R siRNA (Human)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
PTHR: This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in PTH1R are the cause of Jansen metaphyseal chondrodysplasia (JMC). JMC is a rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. Defects in PTH1R are the cause of chondrodysplasia Blomstrand type (BOCD). BOCD is a severe skeletal dysplasia. Defects in PTH1R may be a cause of enchondromatosis multiple (ENCHOM). Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. Defects in PTH1R are the cause of Eiken skeletal dysplasia (EISD); also known as bone modeling defect of hands and feet. It is a rare familial autosomal recessive skeletal dysplasia. It is characterized by multiple epiphyseal dysplasia, with extremely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. Defects in PTH1R are a cause of primary failure of tooth eruption (PFE). 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. Belongs to the G-protein coupled receptor 2 family.
Protein type: Membrane protein, multi-pass; Receptor, GPCR; GPCR, family 2; Membrane protein, integral
Chromosomal Location of Human Ortholog: 3p22-p21.1
Cellular Component: integral to plasma membrane; brush border membrane; basolateral plasma membrane; cytoplasm; apical plasma membrane; plasma membrane; nucleus; receptor complex
Molecular Function: protein binding; protein self-association; peptide hormone binding; parathyroid hormone receptor activity
Biological Process: cell maturation; G-protein signaling, adenylate cyclase activating pathway; bone mineralization; osteoblast development; G-protein signaling, coupled to cAMP nucleotide second messenger; negative regulation of cell proliferation; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein coupled receptor protein signaling pathway; elevation of cytosolic calcium ion concentration; positive regulation of cell proliferation; chondrocyte differentiation; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); skeletal development; aging; bone resorption
Disease: Eiken Syndrome; Chondrodysplasia, Blomstrand Type; Failure Of Tooth Eruption, Primary; Metaphyseal Chondrodysplasia, Jansen Type
Research Articles on PTH1R
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Product Notes
The PTH1R pth1r (Catalog #AAA8211525) is a siRNA produced from Synthetic and is intended for research purposes only. The product is available for immediate purchase. The PTH1R siRNA (Human) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's PTH1R can be used in a range of immunoassay formats including, but not limited to, RNA Interference (RNAi). Researchers should empirically determine the suitability of the PTH1R pth1r for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "PTH1R, siRNA" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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