人 PTH1R (NM_000316) cDNA克隆

Accession: NM_000316
基因名称: PTH1R
基因别名: PFE; PTHR; PTHR1
基因描述: Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1782 (查看编码区序列)
翻译后氨基酸长度: 593 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
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G105936 人 PTH1R (NM_000316) cDNA克隆 pDONR223 2ug质粒 点击询价

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]