What is the official name of the PTH1R gene?
The official name of this gene is “parathyroid hormone 1 receptor.”
PTH1R is the gene's official symbol. The PTH1R gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PTH1R gene?
- From NCBI Gene:
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]
- From UniProt:
This is a 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.
How are changes in the PTH1R gene related to health conditions?
- UniProt provides the following information about the PTH1R gene's known or predicted involvement in human disease.
Jansen metaphyseal chondrodysplasia (JMC): Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. The disease is caused by mutations affecting the gene represented in this entry.
Chondrodysplasia Blomstrand type (BOCD): Severe skeletal dysplasia. The disease is caused by mutations affecting the gene represented in this entry.
Enchondromatosis multiple (ENCHOM): 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. The disease may be caused by mutations affecting the gene represented in this entry.
Eiken skeletal dysplasia (EISD): 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. The disease is caused by mutations 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. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PTH1R gene.
- Chondrodysplasia Blomstrand type
- Eiken skeletal dysplasia
- Failure of tooth eruption, primary
- Metaphyseal chondrodysplasia, Jansen type
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the PTH1R gene located?
Cytogenetic Location: 3p22-p21.1
Molecular Location on chromosome 3: base pairs 46,877,745 to 46,903,798
The PTH1R gene is located on the short (p) arm of chromosome 3 between positions 22 and 21.1.
More precisely, the PTH1R gene is located from base pair 46,877,745 to base pair 46,903,798 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PTH1R?
You and your healthcare professional may find the following resources about PTH1R helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the PTH1R gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PTH1R?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.