Primary Identifier | MGI:1929215 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 218035 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Predicted to be involved in several processes, including cellular response to starvation; endosomal vesicle fusion; and vacuolar transport. Located in early endosome; late endosome membrane; and microtubule cytoskeleton. Part of HOPS complex. Is expressed in embryo; extraembryonic component; and primitive endoderm. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 29. Orthologous to human VPS41 (VPS41 subunit of HOPS complex). PHENOTYPE: Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. [provided by MGI curators] |