Shipping Temp: Dry Ice
SDS-Page
(Recombinant KMT2D (MLL2) complex gel Recombinant KMT2D (MLL2) complex was run on an 10% SDS-PAGE gel and stained with Coomassie blue.)
Testing Data
(Recombinant KMT2D (MLL2) complex HTRF activity assay 3.3 uM H3K4me0 (1-21aa) peptide was incubated with KMT2D (MLL2) complex in reaction buffer for 3 hour at room temperature. KMT2D (MLL2) complex was used in a HTRF assay to determine enzyme linearity. Methylated peptide (H3K4me2) was measured using H3K4me2-specific antibody.)
Testing Data
(Recombinant KMT2D (MLL2) complex MALDI-TOF activity assay 3.3 uM H3K4me0 peptide was incubated with 10 nM KMT2D (MLL2) complex in reaction buffer for 3 hours at room temperature. The reaction product was detected by MALDI-TOF. Single 3.3 uM H3K4me0 peptide was used as negative control. Catalytic Ability: ~450 turnovers/ enzyme molecule)
Background: KMT2D (MLL2) complex (Myeloid/lymphoid or mixed-lineage leukemia 2) is a Trithorax-group protein that function collectively to promote gene expression. KMT2D (MLL2) is a histone methyltransferase that methylates the Lysine 4 position of histone H3. In particular, the SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. The SET domain is responsible for its histone methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. H3K4 methylation represents a specific epigenetic tag for transcriptional activation. MLL2 is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the b-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Transcription regulation; Methyltransferase; EC 2.1.1.43; Methyltransferase, protein lysine; Nuclear receptor co-regulator
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; histone H3-K4 methylation; positive regulation of estrogen receptor signaling pathway; positive regulation of cell proliferation; chromatin silencing; positive regulation of transcription from RNA polymerase II promoter
Disease: Kabuki Syndrome 1
Research Articles on KMT2D
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Product Notes
The KMT2D kmt2d (Catalog #AAA388208) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "KMT2D, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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