RBBP6
Chr 16RB binding protein 6, ubiquitin ligase
Also known as: MY038, P2P-R, PACT, RBQ-1, SNAMA
The RBBP6 protein functions as an E3 ubiquitin ligase that regulates key cellular processes including p53 stability, DNA replication, and chromosomal fragile site stability through targeted protein degradation. Mutations cause autosomal dominant developmental delay with variable intellectual disability and behavioral abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating that proper dosage is critical for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
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
RBBP6 · 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