Primary Identifier | MGI:2136772 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 80743 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin binding activity. Acts upstream of or within symbiont entry into host cell. Located in actin filament; clathrin-coated vesicle; and early endosome membrane. Part of AP-3 adaptor complex and CORVET complex. Used to study dystonia. Human ortholog(s) of this gene implicated in dystonia. Orthologous to human VPS16 (VPS16 core subunit of CORVET and HOPS complexes). PHENOTYPE: Mice with a homozygous point mutation in exon 3 display impaired motor function. [provided by MGI curators] |