Primary Identifier | MGI:95776 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 14682 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G protein activity and enzyme regulator activity. Involved in several processes, including G protein-coupled receptor signaling pathway; ligand-gated ion channel signaling pathway; and positive regulation of insulin secretion. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; maternal behavior; and neuron development. Located in cell body; dendrite; and membrane. Is active in plasma membrane and postsynaptic cytosol. Is expressed in several structures, including central nervous system; gonad; heart; intestine smooth muscle circular layer; and retina. Used to study congestive heart failure and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in Sturge-Weber syndrome; congestive heart failure; and familial multiple nevi flammei. Orthologous to human GNAQ (G protein subunit alpha q). PHENOTYPE: Mutant mice exhibit pigmentation anomalies affecting the ears, tail and footpads. [provided by MGI curators] |