Primary Identifier | MGI:1859165 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 54376 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including PDZ domain binding activity; ionotropic glutamate receptor binding activity; and voltage-gated calcium channel activity. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane and protein targeting. Located in somatodendritic compartment. Part of AMPA glutamate receptor complex. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and immune system. Human ortholog(s) of this gene implicated in childhood absence epilepsy and macular degeneration. Orthologous to human CACNG3 (calcium voltage-gated channel auxiliary subunit gamma 3). PHENOTYPE: Male mice homozygous for disruptions in this gene have elevated cholesterol and HDL levels. [provided by MGI curators] |