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.

Polyclonal

Rabbit Ig

Rabbit

This MLL2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 4980-5009 amino acids from the C-terminal region of human MLL2.

Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis against PBS.

Vial Concentration: 2 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-KMT2D antibody 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.

The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL family, including MLL2. The MLL SET domain is a histone H3 Lys4 (K4)-specific methyltransferase whose activity is stimulated with acetylated H3 peptides. The gene for MLL2 encodes a 5,262-amino acid protein containing a SET domain, 5 PHD fingers, potential zinc fingers, and a long run of glutamines interrupted by hydrophobic residues (mostly leucine). They also detected an alternatively spliced form encoding 4,957 amino acids and lacking an N-terminal zinc finger and PHD finger. By analysis of rodent/human hybrid cells and analysis of the Genebridge radiation hybrid panel, they mapped the gene to the 12p13.1-qter region. The 12q12-q13 region is involved in duplications and translocations associated with cancer. By database searching, Karlin et al. (2002) identified 192 human protein sequences that have multiple amino acid runs, many of which are associated with disease, including cancer. Karlin et al. (2002) found that a key aspect of 82 of these protein sequences is their role in transcription, translation, and developmental regulation. MLL2 is a striking example of proteins with multiple amino acid runs, with 22 glutamine runsGenes encoding a significant number of long amino acid runs are potentially associated with diseases, such as cancer.

ELISA (EIA)

593389

lysine (K)-specific 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: Nuclear receptor co-regulator; Methyltransferase, protein lysine; Methyltransferase; EC 2.1.1.43; Transcription regulation

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: nucleoplasm; histone methyltransferase complex; nucleus

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

Biological Process: oogenesis; oocyte growth; establishment and/or maintenance of chromatin architecture; transcription, DNA-dependent; regulation of transcription, DNA-dependent; response to estrogen stimulus; chromatin silencing; positive regulation of cell proliferation; positive regulation of estrogen receptor signaling pathway; histone H3-K4 methylation; positive regulation of transcription from RNA polymerase II promoter

Disease: Kabuki Syndrome 1

Prasad, R., et al., Oncogene 15(5):549-560 (1997).

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