KDM6A : lysine demethylase 6A


Description

The KDM6A (lysine demethylase 6A) is a protein-coding gene located on chromosome X.

The KDM6A gene provides instructions for making an enzyme called lysine-specific demethylase 6A that is found in many organs and tissues of the body. Lysine-specific demethylase 6A functions as a histone demethylase. Histone demethylases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By removing a molecule called a methyl group from histones (a process called demethylation), histone demethylases control (regulate) the activity of certain genes. Lysine-specific demethylase 6A appears to regulate certain genes that are important for development.Lysine-specific demethylase 6A is also believed to act as a tumor suppressor, which means it normally helps prevent cells from growing and dividing in an uncontrolled way.

KDM6A, also known as UTX, is a histone demethylase that specifically removes methyl groups from lysine 27 (Lys-27) of histone H3. This demethylation activity is crucial for regulating gene expression and is part of the 'histone code.' KDM6A primarily demethylates trimethylated and dimethylated Lys-27, but not monomethylated Lys-27. The demethylation of Lys-27 is often accompanied by the methylation of Lys-4 on histone H3, which influences the recruitment of the PRC1 complex and the monoubiquitination of histone H2A. KDM6A plays a central role in regulating posterior development by controlling HOX gene expression. Furthermore, it has a demethylase-independent function in chromatin remodeling to control gene expression regulated by T-box family members.

KDM6A is also known as KABUK2, UTX, bA386N14.2.

Associated Diseases


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