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KABUK2
Chr XXLDlysine demethylase 6A
Also known as: KABUK2, UTX, bA386N14.2
The protein is a histone demethylase that removes methyl groups from trimethylated and dimethylated histone H3, regulating gene expression through chromatin modification. Mutations cause Kabuki syndrome 2, a multisystem developmental disorder typically involving intellectual disability, distinctive facial features, skeletal abnormalities, and cardiac defects. The condition follows X-linked dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KABUK2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KABUK2 · 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
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External Resources
Links to major genomics databases and tools