Histone-lysine N-methyltransferase 2D; Lysine N-methyltransferase 2D; ALL1-related protein; Myeloid/lymphoid or mixed-lineage leukemia protein 2; KMT2D; ALR; MLL2; MLL4

For Research Use Only. Not for use in diagnostic procedures.

The synthetic peptide sequence used to generate the antibody was selected from the C-term region of human MLL2. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.

The synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml deionized water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of KMT2D blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

593,677 Da

lysine methyltransferase 2D

histone-lysine N-methyltransferase 2D

Histone-lysine N-methyltransferase 2D

ALR; MLL2; MLL4; Lysine N-methyltransferase 2D??[Similar Products]

KMT2D_HUMAN

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

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

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