MSL3
Chr XXLDMSL complex subunit 3
Also known as: MRSXBA, MRXS36, MRXSBA, MSL3L1
MSL3 encodes a non-catalytic component of the MSL histone acetyltransferase complex that mediates histone H4 acetylation at lysine-16, maintaining chromosome stability and regulating X-linked gene expression. Mutations cause Basilicata-Akhtar syndrome with X-linked dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.18), indicating that mutations are likely to have significant functional consequences.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
MSL3 · 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