TMEM35A
Chr Xtransmembrane protein 35A
Also known as: NACHO, TMEM35, TUF-1
TMEM35A encodes a molecular chaperone that mediates proper assembly and functional expression of nicotinic acetylcholine receptors throughout the brain, facilitating their folding, assembly, and surface trafficking. Mutations cause autosomal recessive intellectual developmental disorder with seizures and language delay. The gene shows moderate constraint against loss-of-function variants, affecting critical neurotransmitter receptor function in the developing nervous system.
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 gain-of-function.
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
TMEM35A · 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