| Primary Identifier | MGI:1351351 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 12374 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including integrin binding activity; protein homodimerization activity; and transmembrane transporter binding activity. Involved in regulation of presynaptic membrane potential. Acts upstream of or within positive regulation of gene expression and regulation of calcium ion transport. Is active in glutamatergic synapse. Is expressed in several structures, including branchial pouch; central nervous system; lung; metanephros; and superior cervical ganglion. Used to study autosomal dominant hypocalcemia 1; familial hypocalciuric hypercalcemia 1; and hyperparathyroidism. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); idiopathic generalized epilepsy 8; and nephrolithiasis (multiple). Orthologous to human CASR (calcium sensing receptor). PHENOTYPE: Homozygotes for a targeted null mutation exhibit high levels of serum calcium and parathyroid hormone, parathyroid hyperplasia, bone defects, reduced growth, and early death. Carriers have elevated serum calcium, magnesium, and parathyroid hormone levels. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
