Immunogen sequence: AQLADTLFSK GLGPWDPPDN LAETQKPEQS SLVPGHLDQV NGQVVPEASQ LSIKQEPREE PCALGAQSVK REANGEPIGA PGTSNHLLLA GPRSEAGHLL LQKLLRAKNV QLSTGRGSEG LRAEINGHI
Highest antigen sequence identity to the following orthologs: Mouse - 90%, Rat - 84%.
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 silencig, 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: ALL1-related protein; 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; myeloid/lymphoid or mixed-lineage leukemia 2; Myeloid/lymphoid or mixed-lineage leukemia protein 2; trinucleotide repeat containing 21
Gene Aliases: AAD10; ALR; CAGL114; KABUK1; KMS; KMT2D; MLL2; MLL4; TNRC21
UniProt ID: (Human) O14686
Entrez Gene ID: (Human) 8085