PTH1R

Highest pathogenic variant AF is 0.000005712472

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000313049

Coding exons

14

Length

26052

Individuals with no LoFs

125740

Homozygous LoFs

0

Heterozygous LoFs

8

Defined

125748

p

0.0000318

Function

FUNCTION: 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. {ECO:0000269|PubMed:20172855, ECO:0000269|PubMed:27160269, ECO:0000269|PubMed:8397094}.;

Disease

DISEASE: Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. {ECO:0000269|PubMed:10487664, ECO:0000269|PubMed:15240651, ECO:0000269|PubMed:27160269, ECO:0000269|PubMed:7701349, ECO:0000269|PubMed:8703170, ECO:0000269|PubMed:9178745}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. {ECO:0000269|PubMed:9745456}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. {ECO:0000269|PubMed:11850620}. Note=The disease may be caused by mutations affecting the gene represented in this entry.; DISEASE: Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely 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. {ECO:0000269|PubMed:15525660}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Primary failure of tooth eruption (PFE) [MIM:125350]: 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. {ECO:0000269|PubMed:19061984}. Note=The disease is caused by mutations affecting the gene represented in this entry.;