TFB2M
Chr 1transcription factor B2, mitochondrial
Also known as: Hkp1, h-mtTFB, h-mtTFB2, hTFB2M, mtTFB2
TFB2M encodes a mitochondrial rRNA methyltransferase that is an essential component of the mitochondrial transcription initiation complex, required for transcription of mitochondrial DNA. Mutations cause combined oxidative phosphorylation deficiency, an autosomal recessive mitochondrial disorder presenting with early-onset encephalomyopathy, developmental delay, and respiratory chain dysfunction. The gene shows high evolutionary constraint, reflecting its critical role in mitochondrial function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
TFB2M · 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