MLL2 Active Protein

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

MLL4: 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. Defects in MLL2 are the cause of Kabuki syndrome type 1 (KABUK1). A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Nuclear receptor co-regulator; Transcription regulation

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: histone methyltransferase complex; nucleoplasm

Molecular Function: histone lysine N-methyltransferase activity (H3-K4 specific); histone-lysine N-methyltransferase activity; protein binding

Biological Process: chromatin silencing; histone H3-K4 methylation; oocyte growth; oogenesis; positive regulation of cell proliferation; positive regulation of estrogen receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; response to estrogen stimulus

Disease: Kabuki Syndrome 1