| Primary Identifier | MGI:88293 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 12289 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables ankyrin binding activity and voltage-gated calcium channel activity. Involved in regulation of atrial cardiac muscle cell membrane repolarization and regulation of potassium ion transmembrane transport. Acts upstream of or within several processes, including calcium ion transmembrane transport; cardiac conduction; and sensory perception of sound. Located in Z disc and plasma membrane. Is active in cochlear hair cell ribbon synapse and presynaptic active zone membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human CACNA1D (calcium voltage-gated channel subunit alpha1 D). PHENOTYPE: Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. [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
