Primary Identifier | MGI:1316660 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 12300 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables voltage-gated calcium channel activity. Involved in neurotransmitter receptor internalization; postsynaptic neurotransmitter receptor diffusion trapping; and protein localization to organelle. Acts upstream of or within several processes, including membrane hyperpolarization; neuromuscular junction development; and transmission of nerve impulse. Located in somatodendritic compartment. Part of AMPA glutamate receptor complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density membrane. Is expressed in several structures, including brain; genitourinary system; ileum; spinal cord; and trigeminal nerve. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 10. Orthologous to human CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2). PHENOTYPE: Homozygotes for mutant alleles show growth retardation, movement anomalies including ataxic gait, tremor and head tossing, and neocortical spike-wave seizures. [provided by MGI curators] |