VPS41
Chr 7ARVPS41 subunit of HOPS complex
Also known as: HVPS41, HVSP41, SCAR29, hVps41p
This protein functions as a component of the HOPS endosomal tethering complex, mediating vesicle fusion between late endosomes and lysosomes and facilitating autophagosome-lysosome fusion essential for cellular degradation pathways. Biallelic mutations cause spinocerebellar ataxia, autosomal recessive 29 through loss-of-function mechanisms that disrupt vesicle-mediated protein trafficking to lysosomal compartments.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VPS41 · 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