Lysine-specific demethylase 6A (KDM6A (or UTX))

Lysine-specific demethylase 6A (KDM6A, also known as UTX) is an enzyme encoded by the KDM6A gene located on the X chromosome[2][5]. It is a histone demethylase that specifically demethylates di- and tri-methylated lysine 27 on histone H3 (H3K27me2/3), a key epigenetic modification implicated in chromatin structure and gene regulation[3][4][5]. By removing these methyl groups, KDM6A plays essential roles in transcriptional activation, cell differentiation, embryonic and tissue-specific development, and acts as a tumor suppressor in multiple cancer types[3][2]. Mutations in KDM6A cause Kabuki syndrome, a congenital malformation disorder, and are also found in various cancers such as bladder, breast, colon, and leukemia, where loss of function typically contributes to tumor development[2][3]. KDM6A acts independently of and in cooperation with other chromatin regulators, like MLL3/MLL4 and p300, to control transcription and enhancer activation[3]. KDM6A inhibition or loss of function, while under investigation as an anticancer strategy, poses risks because of its central role in normal development and gene regulation[3].

Other names

Ubiquitously transcribed tetratricopeptide repeat, X chromosomeUTXKDM6A_HUMANHistone demethylase UTXLysine (K)-specific demethylase 6AUbiquitously transcribed TPR gene on the X chromosomeUbiquitously-transcribed TPR protein on the X chromosomebA386N14.2KABUK2

Inhibition of H3K27 demethylase activity leads to altered chromatin structure and transcriptional silencing - Modulation of KDM6A can regulate gene expression patterns influencing cell proliferation and differentiation