PTH1R
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.
Involvement in disease
Metaphyseal chondrodysplasia, Jansen type
MCDJ
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Chondrodysplasia Blomstrand type
BOCD
Severe skeletal dysplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Eiken syndrome
EKNS
An autosomal recessive 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Primary failure of tooth eruption
PFE
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family.
Tissue Specificity
Expressed in most tissues. Most abundant in kidney, bone and liver.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
PTHR, PTHR1, PTH1R, Parathyroid hormone/parathyroid hormone-related peptide receptor, PTH/PTHrP type I receptor, Parathyroid hormone 1 receptor, PTH/PTHr receptor, PTH1 receptor