WASHC4
Function
Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 43
MRT43
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SWIP family.
Cellular localization
- Early endosome
Alternative names
KIAA1033, WASHC4, WASH complex subunit 4, Strumpellin and WASH-interacting protein, WASH complex subunit SWIP, SWIP