Primary Identifier | MGI:2443626 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228545 |
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 endosome organization and symbiont entry into host cell. Located in actin filament and early endosome. Part of AP-3 adaptor complex and CORVET complex. Is expressed in alimentary system; ganglia; nose; and peripheral nervous system. Orthologous to human VPS18 (VPS18 core subunit of CORVET and HOPS complexes). PHENOTYPE: Mice homozygous for a reporter allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in the nervous system exhibit impaired neuron migration and neurodegeneration associated with increased apoptosis and impaired autophagy and endocytosis. [provided by MGI curators] |