WASHC5
Chr 8ARADWASH complex subunit 5
Also known as: KIAA0196, RTSC, RTSC1, SPG8
The protein strumpellin acts as a component of the WASH core complex that recruits and activates the Arp2/3 complex to induce actin polymerization at endosome surfaces, playing a key role in endosome sorting and cellular trafficking. Mutations cause either autosomal dominant spastic paraplegia 8 characterized by progressive lower extremity spasticity, or autosomal recessive Ritscher-Schinzel syndrome 1 which involves multiple organ systems. This gene is highly intolerant to loss-of-function variants (pLI ~0), indicating it is under strong evolutionary constraint.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WASHC5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools