PTH1R wt Allele

Preferred Label : PTH1R wt Allele;

NCIt synonyms : PTHR; PFE; PTHR1; Parathyroid Hormone Receptor 1 Gene; Parathyroid Hormone 1 Receptor wt Allele; EKNS;

NCIt 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.;

NCI Metathesaurus CUI : CL1927397;

GenBank Accession Number : NM_000316;

Details

Origin ID

C204900;

OMIM relation
- Parathyroid hormone 1 receptor [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.31 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Homeostasis [NCIt concept]
- Cell Proliferation [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

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