Primary Identifier | MGI:105976 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 17918 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including calmodulin binding activity; disordered domain specific binding activity; and small GTPase binding activity. Involved in several processes, including cellular response to insulin stimulus; establishment of endoplasmic reticulum localization to postsynapse; and regulation of postsynaptic cytosolic calcium ion concentration. Acts upstream of or within several processes, including melanosome transport; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; and secretion by cell. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and photoreceptor outer segment. Part of unconventional myosin complex. Is active in glutamatergic synapse; postsynapse; and smooth endoplasmic reticulum. Is expressed in several structures, including central nervous system; peripheral nervous system ganglion; retina; secondary oocyte; and stomach. Used to study Griscelli syndrome type 1. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Orthologous to human MYO5A (myosin VA). PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators] |