KDM6A
Function
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PubMed:17713478, PubMed:17761849, PubMed:17851529). Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27' (PubMed:17713478, PubMed:17761849, PubMed:17851529). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PubMed:17851529). Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A (PubMed:17761849). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity).
Involvement in disease
Kabuki syndrome 2
KABUK2
A congenital intellectual disability syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the UTX family.
Cellular localization
- Nucleus
Alternative names
UTX, KDM6A, Lysine-specific demethylase 6A, Histone demethylase UTX, Ubiquitously-transcribed TPR protein on the X chromosome, Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein, [histone H3]-trimethyl-L-lysine(27) demethylase 6A