CASR wt Allele

Preferred Label : CASR wt Allele;

NCIt synonyms : PCAR1; HHC1; Parathyroid Ca(2 )-Sensing Receptor 1 Gene; CAR; EIG8; HYPOC1; Severe Neonatal Hyperparathyroidism Gene; HHC; Calcium Sensing Receptor wt Allele; FIH; hCasR; FHH; NSHPT; Hypocalciuric Hypercalcemia 1 Gene; GPRC2A;

NCIt definition : Human CASR wild-type allele is located within 3q13.33-q21.1 and is approximately 108 kb in length. This allele, which encodes extracellular calcium-sensing receptor protein, plays a role in G-protein-coupled receptor signaling in response to changes in circulating calcium concentration. Mutations in the gene are associated with idiopathic generalized epilepsy 8, severe neonatal hyperparathyroidism, familial hypocalciuric hypercalcemia type 1 and autosomal dominant hypocalcemia 1, with or without Bartter Syndrome.;

GenBank Accession Number : U20760;

Details

Origin ID

C201831;

OMIM relation
- Calcium-sensing receptor [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- E-Cadherin Signaling Pathway [NCIt concept]
- NOD-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Calcium Homeostasis [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

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