| 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 9.1.0) 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 transport. Acts upstream of or within several processes, including adenylate cyclase-modulating G protein-coupled receptor signaling pathway; cardiac conduction; and sensory perception of sound. Located in Z disc and plasma membrane. Is active in cochlear hair cell ribbon synapse; presynaptic active zone membrane; and synaptic ribbon. Is expressed in several structures, including alimentary system; central nervous system; endocrine gland; genitourinary system; and sensory organ. Used to study sick sinus syndrome. 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. Homozygosity for an autism spectrum disorder (ASD) related gain-of-function mutation causes delayed inactivation of dendritic Ca2+ channels, which leads to impaired long-term postsynaptic depression of striatal spiny projection neuron synapses. [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
