| Primary Identifier | MGI:1309468 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12372 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion binding activity. Involved in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion and sarcomere organization. Acts upstream of or within endoplasmic reticulum organization; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; and response to heat. Located in mitochondrial matrix and sarcoplasmic reticulum lumen. Is expressed in several structures, including diaphragm; lung; musculature; myotome; and sciatic nerve. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human CASQ1 (calsequestrin 1). PHENOTYPE: Homozygous knockout mice exhibit structural alterations of the Ca2+ release units, an increased frequency of mitochondria, and significantly impaired calcium handling in skeletal muscle. [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
