MYBBP1A
Chr 17MYB binding protein 1a
Also known as: P160, PAP2, Pol5
The protein encoded by this gene is a nucleolar transcriptional regulator that controls ribosomal RNA biogenesis and acts as a transcriptional corepressor through histone deacetylase activity. Mutations cause autosomal dominant developmental delay with variable intellectual disability and dysmorphic features, typically presenting in early childhood. This gene is extremely intolerant to loss-of-function variants, indicating that haploinsufficiency likely underlies the neurodevelopmental phenotype.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
469 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 3 | 320 | 18 | 1 | 342 |
Likely Benign | 0 | 30 | 3 | 9 | 42 |
Benign | 1 | 9 | 2 | 6 | 18 |
Conflicting | — | 2 | |||
| Total | 4 | 359 | 46 | 16 | 427 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYBBP1A · 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