PTH1R Chromosome 3
Parathyroid hormone 1 receptor
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What This Gene Does
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]
Gene Info
Gene Group
Parathyroid hormone receptors
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000160801
Associated Conditions (14)
Connective tissue disorder
PTH1R-related disorder
Metaphyseal chondrodysplasia
Jansen type
Chondrodysplasia Blomstrand type
Nonpapillary renal cell carcinoma
Lymphoma
Primary failure of tooth eruption
Eiken syndrome
Inborn genetic diseases
Brachydactyly type E1
Intellectual disability
Pseudohypoparathyroidism
See cases
Key Variants
RS112382430
Conflicting classifications of pathogenicity
Connective tissue disorder, PTH1R-related disorder, Connective tissue disorder
Health Risk
RS1172297627
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type
Health Risk
RS1336354545
Conflicting classifications of pathogenicity
Connective tissue disorder, Connective tissue disorder
Health Risk
RS138646765
Conflicting classifications of pathogenicity
Metaphyseal chondrodysplasia, Jansen type, Chondrodysplasia Blomstrand type
Health Risk
RS140651831
Conflicting classifications of pathogenicity
Nonpapillary renal cell carcinoma, Lymphoma, Nonpapillary renal cell carcinoma
Health Risk
RS141466964
Conflicting classifications of pathogenicity
Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type
Health Risk
RS148414587
Conflicting classifications of pathogenicity
Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type
Health Risk
RS148778122
Conflicting classifications of pathogenicity
Primary failure of tooth eruption, Eiken syndrome, Chondrodysplasia Blomstrand type
Health Risk
RS151330461
Conflicting classifications of pathogenicity
Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type
Health Risk
RS1683106396
Conflicting classifications of pathogenicity
Connective tissue disorder, PTH1R-related disorder, Metaphyseal chondrodysplasia
Health Risk
RS187585108
Conflicting classifications of pathogenicity
Health Risk
RS199670451
Conflicting classifications of pathogenicity
Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia, Jansen type
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2545048376 | Health Risk | Pathogenic | See cases, See cases |
| RS398122843 | Health Risk | Pathogenic | Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type |