KMT2B


Description

The KMT2B (lysine methyltransferase 2B) is a protein-coding gene located on chromosome 19.

KMT2B is a human gene that encodes a protein known as Histone-lysine N-methyltransferase 2B (KMT2B), Myeloid/lymphoid or mixed-lineage leukemia protein 4 (MLL4), Trithorax homolog 2, or WW domain-binding protein 7. It is a histone methyltransferase that plays a vital role in chromatin remodeling, gene regulation, and development. KMT2B is involved in methylation of histone H3 at lysine 4 (H3K4), a modification that is associated with active transcription. The protein functions within a multi-protein complex and interacts with several other proteins, including MEN1, NFE2, KDM6B, and WDR5, to carry out its diverse functions.

KMT2B (also known as MLL4, Trithorax homolog 2, WW domain-binding protein 7) is a histone methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of Lysine 4 on histone H3 (H3K4) via a non-processive mechanism. It predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites, where transcription and DNA repair take place. KMT2B is likely redundant with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements. It plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. KMT2B is important for controlling bulk H3K4me during oocyte growth and preimplantation development. During the transcriptionally active period of oocyte growth, KMT2B is required for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that precedes resumption of meiosis, oocyte survival, and normal zygotic genome activation.

KMT2B is also known as CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7.

Associated Diseases



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