KMT2D is a histone methyltransferase that methylates Lys-4 of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. KMT2D acts as a coactivator for estrogen receptors by being recruited by ESR1 and activating transcription. KMT2D is involved in chromatin organization, chormatin silencing, oocyte growth, oogenesis, and a positive regulation of cell proliferation. Mutations in the KMT2D gene cause Kabuki syndrome (KABUK1) which results in congential mental retardation syndrome.
ALL1-related protein; ALR; Histone-lysine N-methyltransferase 2D; histone-lysine N-methyltransferase MLL2; Kabuki make-up syndrome; Kabuki mental retardation syndrome; Lysine (K)-Specific Methyltransferase 2D; Lysine N-methyltransferase 2D; MLL2; MLL4; myeloid/lymphoid or mixed-lineage leukemia 2; Myeloid/lymphoid or mixed-lineage leukemia protein 2; trinucleotide repeat containing 21