RBBP9
Chr 20RB binding protein 9, serine hydrolase
Also known as: BOG, RBBP10
The RBBP9 protein functions as a serine hydrolase and retinoblastoma binding protein that regulates cell proliferation, differentiation, and TGF-beta signaling pathways. Mutations cause autosomal recessive intellectual disability with seizures and variable dysmorphic features, typically presenting in early childhood. This gene shows tolerance to loss-of-function variants (pLI 0.05, LOEUF 0.81), consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RBBP9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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