TAF1
Chr XXLRTATA-box binding protein associated factor 1
Also known as: BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, N-TAF1
TAF1 encodes the largest subunit of TFIID, a basal transcription factor that binds core promoter sequences and coordinates RNA polymerase II transcription initiation, and possesses kinase, acetyltransferase, and ubiquitin-conjugating activities. Mutations cause X-linked recessive dystonia-parkinsonism (DYT3) and X-linked syndromic intellectual developmental disorder through loss-of-function mechanisms. The gene is highly intolerant to loss-of-function variants, reflecting its essential role in transcriptional regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
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
TAF1 · 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