Histone-lysine N-methyltransferase 2D (KMT2D)

Histone-lysine N-methyltransferase 2D (KMT2D) is a large, widely expressed enzyme that mediates mono-, di-, and trimethylation of histone H3 at lysine 4 (H3K4), a chromatin modification associated with gene activation and enhancer function. KMT2D acts as a key epigenetic regulator, functioning as part of multi-protein complexes to activate gene expression critical for embryonic development, tissue-specific differentiation, and cellular metabolism. It is essential for the proper formation and activity of enhancers and is required for binding of additional co-activators such as CBP and p300. Loss-of-function mutations in KMT2D cause Kabuki syndrome, a multisystem developmental disorder, and KMT2D is frequently mutated in various cancers, particularly lymphomas, where it serves as a major tumor suppressor. Disruption of its activity can result in impaired gene regulation, defective differentiation, abnormal metabolism, and predisposition to malignancy[1][2][3][4][5][6][7].

Other names

MLL2MLL4Lysine methyltransferase 2DALL1-related proteinMyeloid/lymphoid or mixed-lineage leukemia protein 2ALRCAGL114AAD10BCAHHKABUK1KMSTNRC21Trinucleotide repeat containing 21

Inhibition or modulation of KMT2D catalytic activity (H3K4 methyltransferase activity) Epigenetic reactivation or suppression of target gene expression