TMEM11
Chr 17transmembrane protein 11
Also known as: C17orf35, PM1, PMI
TMEM11 encodes a mitochondrial inner membrane protein that functions in mitochondrial morphogenesis and organization. Loss-of-function mutations cause mitochondrial dysfunction leading to neurological disease with autosomal recessive inheritance. The gene shows high intolerance to loss-of-function variants, consistent with its essential role in mitochondrial structure and function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM11 · 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
External Resources
Links to major genomics databases and tools