BPTF
Chr 17bromodomain PHD finger transcription factor
Also known as: FAC1, FALZ, NEDDFL, NURF301
The BPTF protein is the largest subunit of the NURF chromatin remodeling complex and catalyzes nucleosome sliding on DNA, which is essential for transcription regulation. Loss-of-function mutations cause autosomal dominant neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. The gene is extremely intolerant to loss-of-function variants, with haploinsufficiency being the likely disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
BPTF · 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