Aliases for WASHC4 Gene
External Ids for WASHC4 Gene
Previous HGNC Symbols for WASHC4 Gene
This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for WASHC4 Gene
WASHC4 (WASH Complex Subunit 4) is a Protein Coding gene. Diseases associated with WASHC4 include Mental Retardation, Autosomal Recessive 43 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Endocytosis.
UniProtKB/Swiss-Prot Summary for WASHC4 Gene
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in the regulation of the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093).