TAMM41
Chr 3ARTAM41 mitochondrial translocator assembly and maintenance homolog
Also known as: C3orf31, COXPD56, RAM41, TAM41
TAMM41 encodes a mitochondrial enzyme that catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol, an essential step in cardiolipin biosynthesis. Mutations cause combined oxidative phosphorylation deficiency 56, a mitochondrial disorder affecting cellular energy production. This condition follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
TAMM41 · 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