PTH1R
LOCUS ID5745
GENE_SYMBOLPTH1R
GENE NAMEparathyroid hormone 1 receptor
SYNONYMNSPFE, PTHR, PTHR1
CHROMOSOME3
HOMOLOGENE ID267
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. upregulation of parathyroid hormone-related protein (PTHrP) and its receptor PTH1R, in experimental DN, associated with renal hypertrophy.20200004