Aliases for KIAA1033 Gene
External Ids for KIAA1033 Gene
Previous GeneCards Identifiers for KIAA1033 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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for KIAA1033 Gene
KIAA1033 (KIAA1033) is a Protein Coding gene. Diseases associated with KIAA1033 include mental retardation, autosomal recessive 43 and autosomal recessive non-syndromic intellectual disability. Among its related pathways are Endocytosis.
UniProtKB/Swiss-Prot for KIAA1033 Gene
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes sems 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).