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Beschreibung

Histone-lysine N-methyltransferase 2D (EC 2.1.1.43, UniProt O14686, also known as MLL4, ALL1-related protein, Lysine N-methyltransferase 2D) is encoded by the KMT2D (also known as MLL4, ALR, KABUK1, MLL2) gene (Gene ID: 8085) in human. MLL4 methylates Lys-4 of histone H3 to form H3K4 mono- and di-methylation (H3K4me1/2), which represents a specific tag for transcriptional enhancers. MLL4 is also a component of the MLL3/4 protein complex that plays an important role during cell differentiation and animal development. MLL4 is localized to the nucleus and is expressed in most embryonic and adult tissues. Defects in MLL4 (often known as KMT2D in the literature) have been linked to Kabuki syndrome and congenital heart diseases. Inactivating mutations in MLL4/MLL2/KMT2D gene have been linked to many types of cancers, including medulloblastoma, non-Hodgkin lymphoma, diffuse large B-cell lymphoma, prostate cancer, breast cancer, hepatocellular carcinoma, ovarian cancer, lung, bladder, head & neck cancers, and pancreatic cancer. (Ref.: Lee, J.E., et al. (2013). Elife. 2:e01503, Lawrence, M.S., et al., (2014). Nature. 505(7484):495-501).