Primary Identifier | MGI:2146110 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 223593 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Involved in meiotic spindle assembly; oocyte maturation; and polar body extrusion after meiotic divisions. Acts upstream of or within several processes, including lysosome organization; regulation of actin nucleation; and regulation of vesicle size. Located in endosome. Part of WASH complex. Is expressed in foregut; male reproductive system; nervous system; sensory organ; and vibrissa. Human ortholog(s) of this gene implicated in Ritscher-Schinzel syndrome 1 and hereditary spastic paraplegia 8. Orthologous to human WASHC5 (WASH complex subunit 5). PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal coat color and melanocyte stem cells but enlarged, clustered WASH- and WAFL-positive vesicles. [provided by MGI curators] |