Literature associating KDM6A and CHARGE syndrome
Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein; Histone demethylase that specifically demethylates 'Lys- 27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. 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. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression (By similarity); Lysine demethylases
Synonyms: KDM6A, KDM6Ap, hKDM6A, DKFZP686A03225, F5H6S1 ...