Parathyroid Hormone 1 Receptor

Alternative Names

  • PTH1R
  • Parathyroid Hormone Receptor 1
  • PTHR1
  • PTH Receptor
  • PTHR
  • Parathyroid Hormone/Parathyroid Hormone-Related Protein Receptor
  • PTH/PTHRP Receptor
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OMIM Number

168468

NCBI Gene ID

5745

Uniprot ID

Q03431

Length

26,111 bases

No. of Exons

20

No. of isoforms

1

Protein Name

Parathyroid hormone/parathyroid hormone-related peptide receptor

Molecular Mass

66361 Da

Amino Acid Count

593

Genomic Location

chr3:46,877,688-46,903,798

Gene Map Locus
3p21.31

Description

The Parathyroid Hormone 1 Receptor (PTH1R) gene codes for a member of the G-protein coupled receptor family 2, which is a receptor for both parathyroid hormone and parathyroid-like hormone.  The protein functions to regulate calcium ion homeostasis through activation of adenylate cyclase as well as a phosphatidylinositol-calcium second messenger system.  The signal transduction cascade associated with the receptor stimulates osteoclasts to increase the resorption rate of calcium.  In addition, it also mediates the paracrine activities of parathyroid-like hormone, which is involved in the process of endochondral bone development and epithelial-mesenchymal interactions during teeth and mammary gland formation.  The gene is primarily expressed in the bones and kidneys. 

Mutations in the PTHR1 gene have been associated with a number of disorders.  These include Blomstrand Type chondrodysplasia, a skeletal dysplasia with advancement of bone maturation, Jansen metaphyseal chondrodysplasia, a form of short-limb dwarfism characterized by a retarded differentiation of chondrocytes, Ollier disease, characterized by multiple cartilage tumors and skeletal deformity, Eiken syndrome, a form of skeletal dysplasia characterized by multiple epiphyseal dysplasia and extremely retarded ossification, and Primary Failure of Tooth Eruption (PFE).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000316.3:c.109C>ASaudi ArabiaNC_000003.12:g.46893940C>AUncertain SignificanceUncertain SignificanceChondrodysplasia, Blomstrand TypeNG_008864.1:g.21195C>A; NM_000316.3:c.109C>A; NP_000307.1:p.Gln37Lys794727622197132

Other Reports

Saudi Arabia

Jelani et al., (2016) studied a 5-generation consanguineous Saudi Arabian family originating from the southwestern region in a study looking for the causative gene causing PFE.  This family had four affected girls with tooth eruption failure.  Jelani et al., (2016) utilized whole exome sequencing and identified a homozygous pathogenic (c.611T>A: p.Val204Glu) mutation in the PTH1R gene.  The patients’ mother was heterozygous and the unaffected healthy siblings were homozygous for the wild-type allele.  This mutation was absent in 200 matched controls and was not seen in exome database (ExAc).  This novel mutation expanded the spectrum of PTH1R pathogenicity.

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