PTH1R wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PTH1R wild-type allele is located in the vicinity of 3p21.31 and is approximately 26 kb in length. This allele, which encodes parathyroid hormone/parathyroid hormone-related peptide receptor protein, plays a role in parathyroid hormone and parathyroid-related hormone G protein-coupled receptor signaling. Mutations in the gene are associated with Blomstrand type chondrodysplasia, Eiken syndrome, primary failure of tooth eruption and Murk Jansen type metaphyseal chondrodysplasia.

**Synonyms:** - EKNS - PFE - PTHR - PTHR1 - Parathyroid Hormone 1 Receptor wt Allele - Parathyroid Hormone Receptor 1 Gene