DISEASES

Disease-gene associations mined from literature

Literature on KDM6A

KDM6A [ENSP00000367203]

Lysine-specific demethylase 6A; 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). ECO:0000269|PubMed:17713478, ECO:0000269|PubMed:17761849,

Synonyms:  KDM6A,  KDM6Ap,  hKDM6A,  A0A087WUN6,  A0A087X0R0 ...

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