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KABUK2

Chr XXLD

lysine demethylase 6A

Also known as: KABUK2, UTX, bA386N14.2

NCBI Gene: 7403 OMIM: 300867

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.

OMIM ResearchSummary from RefSeq, OMIM

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

OMIM ResearchGenerating clinical summary…