TFB1M
Chr 6transcription factor B1, mitochondrial
Also known as: CGI-75, CGI75, mtTFB, mtTFB1
The protein functions as a mitochondrial dimethyltransferase that methylates conserved adenosine residues in 12S rRNA and is required for basal transcription of mitochondrial DNA. Mutations cause combined oxidative phosphorylation deficiency 18, which presents as a mitochondrial disorder with variable features including encephalomyopathy, developmental delay, and hearing loss. The gene follows autosomal recessive inheritance and is extremely intolerant to loss-of-function variants.
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
TFB1M · 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