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 8.0.0) 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 30. 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] |