MLLT3
Chr 9MLLT3 super elongation complex subunit
Also known as: AF9, YEATS3
MLLT3 encodes a chromatin reader component of the super elongation complex that recognizes acetylated and crotonylated histones to promote RNA polymerase II transcription and maintain hematopoietic stem cell function. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and behavioral abnormalities. This gene is highly constrained against loss-of-function mutations (pLI 0.999, LOEUF 0.131), consistent with its essential role in transcriptional regulation.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
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
MLLT3 · 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
Nintedanib and Azacitidine in Treating Participants With HOX Gene Overexpression Relapsed or Refractory Acute Myeloid Leukemia
ACTIVE NOT RECRUITINGClinical Study of Induction Therapy Options Based on Molecular Subtyping and MRD in Children and Adolescents With AML
RECRUITINGExternal Resources
Links to major genomics databases and tools