TMEM242
Chr 6transmembrane protein 242
Also known as: BM033, C6orf35
TMEM242 encodes a scaffold protein that facilitates assembly of the mitochondrial ATP synthase complex (complex V) by assisting with c-ring formation and incorporation of multiple ATP synthase subunits. Mutations cause mitochondrial complex V deficiency with autosomal recessive inheritance, typically presenting in infancy with severe neurological manifestations including developmental delay, seizures, and progressive encephalopathy. The gene shows tolerance to loss-of-function variants in the general population, suggesting complete loss of function may be required for disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
TMEM242 · 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 →No open access results found
External Resources
Links to major genomics databases and tools