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WASH complex subunit 5 (WASHC5)
- Target
- WASHC5
- Molecular classification
- Other (component of multiprotein complex, actin cytoskeleton/vesicular transport regulator), Cytoskeletal regulator, Nucleation-promoting factor (NPF)
01
Overview
WASH complex subunit 5 (WASHC5), also known as Strumpellin or KIAA0196, is a ubiquitously expressed protein that serves as a core component of the WASH complex, which acts as a nucleation-promoting factor (NPF) for actin polymerization at endosome surfaces[1][3][7]. Through recruitment and activation of the Arp2/3 complex, it is essential for actin-mediated endosome fission, sorting, and intracellular trafficking of cargos[3][7]. Mutations in WASHC5 cause hereditary spastic paraplegia type 8 and 3C syndrome (Ritscher-Schinzel syndrome), highlighting its role in both neurodegenerative and developmental disorders[1][3][4]. WASHC5 is not currently recognized as a direct therapeutic drug target, nor are there drugs known to specifically target this protein.
- Other names
- KIAA0196StrumpellinRTSCRTSC1SPG8WASH complex subunit strumpellin
02
Biological functions
Regulates actin polymerization on endosomal membranesEndosome sorting and fissionCellular trafficking of protein cargoMaintenance of cell structure and cytoskeleton frameworkPotential axonal outgrowth involvement
03
Disease associations
Neurodegenerative disease (Hereditary spastic paraplegia, especially Spastic paraplegia type 8)Developmental disorders (e.g., Ritscher-Schinzel syndrome / 3C syndrome)
04
Safety considerations
Loss-of-function or pathogenic mutations may cause neurodegeneration or developmental disorders[1][3]
05
Biomarkers
Variants in WASHC5 gene as genetic biomarkers for Spastic paraplegia type 8 and 3C syndrome[1][3]
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