| PTH1R |
| LOCUS ID | 5745 | ||||||||||
| GENE_SYMBOL | PTH1R | ||||||||||
| GENE NAME | parathyroid hormone | ||||||||||
| SYNONYMNS | PFE, PTHR, PTHR1 | ||||||||||
| CHROMOSOME | 3 | ||||||||||
| HOMOLOGENE ID | 267 |
| microRNAs | NA | NA |
| 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 wel |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. upregulation of parathyroid hormone-related protein (PTHrP) and its receptor PTH1R, in experimental DN, associated with renal hypertrophy. | 20200004 |