BDP1
Chr 5ARBDP1 general transcription factor IIIB subunit
Also known as: DFNB112, HSA238520, TAF3B1, TFC5, TFIIIB'', TFIIIB150, TFIIIB90, TFNR
BDP1 encodes a subunit of the TFIIIB transcription initiation complex that is required for RNA polymerase III transcription from all three types of promoters. Mutations cause autosomal recessive deafness-112, though the phenotypic spectrum may be incompletely characterized given the gene's essential role in transcription. The gene is highly constrained against loss-of-function variants (LOEUF 0.596), suggesting mutations may have broader developmental consequences.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BDP1 · 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