Literature associating KMT2D and Kabuki syndrome
Myeloid/lymphoid or mixed-lineage leukemia protein 2; Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription; Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Synonyms: KMT2D, KMT2Dp, hKMT2D, F8VWW4, H0YEF2 ...