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KMT2D
Protein-coding gene in humans / From Wikipedia, the free encyclopedia
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Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and sometimes MLL2 in humans and Mll4 in mice, is a major mammalian histone H3 lysine 4 (H3K4) mono-methyltransferase.[5] It is part of a family of six Set1-like H3K4 methyltransferases that also contains KMT2A (or MLL1), KMT2B (or MLL2), KMT2C (or MLL3), KMT2F (or SET1A), and KMT2G (or SET1B).
KMT2D is a large protein over 5,500 amino acids in size and is widely expressed in adult tissues.[6] The protein co-localizes with lineage determining transcription factors on transcriptional enhancers and is essential for cell differentiation and embryonic development.[5] It also plays critical roles in regulating cell fate transition,[5][7][8][9] metabolism,[10][11] and tumor suppression.[12][13][14][15]
Mutations in KMT2D cause human genetic conditions including Kabuki syndrome,[16] another distinct congenital malformations disorder[17] and various forms of cancer.[18]