KMT2B
Chr 19ADlysine methyltransferase 2B
Also known as: CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2
The KMT2B protein is a histone methyltransferase that contains a SET domain and functions as a transcriptional regulator through chromatin modification. Loss-of-function mutations cause autosomal dominant childhood-onset dystonia (dystonia 28) and intellectual developmental disorder, with haploinsufficiency being the underlying pathogenic mechanism. The condition typically presents with progressive dystonia beginning in childhood and may be associated with developmental delays.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KMT2B · 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
External Resources
Links to major genomics databases and tools