| Primary Identifier | MGI:103013 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12288 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables enzyme binding activity; voltage-gated calcium channel activity involved in cardiac muscle cell action potential; and voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Acts upstream of or within several processes, including adult walking behavior; regulation of blood circulation; and secretion by cell. Located in several cellular components, including T-tubule; Z disc; and dendritic shaft. Part of caveolar macromolecular signaling complex and voltage-gated calcium channel complex. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and heart. Used to study Timothy syndrome. Human ortholog(s) of this gene implicated in Brugada syndrome 3; Timothy syndrome; long QT syndrome 8; and neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. Orthologous to human CACNA1C (calcium voltage-gated channel subunit alpha1 C). PHENOTYPE: Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. [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
