| 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 8.0.0) Enables ankyrin binding activity and voltage-gated calcium channel activity. Involved in positive regulation of adenylate cyclase activity; regulation of atrial cardiac muscle cell membrane repolarization; and regulation of potassium ion transmembrane transporter activity. 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; endocrine gland; genitourinary system; 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
