WASHC5 : WASH complex subunit 5
Description
The WASHC5 (WASH complex subunit 5) is a protein-coding gene located on chromosome 8.
The WASHC5 gene provides instructions for making a protein called strumpellin. Strumpellin is active throughout the body. The strumpellin protein contains a repeating segment called the spectrin repeat that interacts with the cytoskeleton. Spectrin repeats are found in many proteins and play an important role in cell structure and communication. Strumpellin binds to other proteins to form the WASH complex, which regulates the activity of actin proteins. Actin proteins form a network for structural support and molecule transport within the cell. The WASH complex works with actin proteins to regulate endosomes, which are structures involved in sorting, transporting, and recycling proteins and other materials.
WASHC5 acts as a core component of the WASH complex, a nucleation-promoting factor (NPF) that promotes actin polymerization at the surface of endosomes. It recruits and activates the Arp2/3 complex, contributing to the fission of tubules involved in endosome sorting. This protein might also play roles in axonal outgrowth, cellular localization of ADRB2, and trafficking of BLOC-1 complex cargos, including ATP7A and VAMP7.
WASHC5 is also known as KIAA0196, RTSC, RTSC1, SPG8.
Associated Diseases
- Spastic paraplegia 8, autosomal dominant
- Autosomal dominant spastic paraplegia type 8
- 3C syndrome
- Ritscher-Schinzel syndrome 1
- Spastic paraplegia type 8
