SNAP29
Chr 22ARsynaptosome associated protein 29
The SNAP29 protein is a SNARE that mediates membrane fusion events, particularly autophagosome-lysosome fusion during autophagy and membrane fusions required for ciliogenesis. Biallelic mutations cause cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, a multisystem disorder affecting the brain, peripheral nerves, and skin with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants in the general population (high LOEUF score), suggesting complete loss of function may be required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
SNAP29 · 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