PTH1R parathyroid hormone 1 receptor

Gene ID: 5745, updated on 28-Oct-2024
Gene type: protein coding
Also known as: PFE; EKNS; PTHR; PTHR1

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 well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Chondrodysplasia Blomstrand type MedGen: C1859148OMIM: 215045GeneReviews: Not available	See labs
Eiken syndrome MedGen: C1838779OMIM: 600002GeneReviews: Not available	See labs
Metaphyseal chondrodysplasia, Jansen type MedGen: C0265295OMIM: 156400GeneReviews: Not available	See labs
Primary failure of tooth eruption MedGen: C1852222OMIM: 125350GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-06-28) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2024-06-28) ClinGen Genome Curation Page

Genomic context

Location:: 3p21.31

Sequence:: Chromosome: 3; NC_000003.12 (46877721..46903799)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PTH1R variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PTH1R database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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