Human myeloid/lymphoid or mixed-lineage leukemia 2 ELISA Kit | MLL2 elisa kit
Human Histone-lysine N-methyltransferase MLL2, MLL2 ELISA Kit
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; Nuclear receptor co-regulator; Methyltransferase; Methyltransferase, protein lysine; EC 2.1.1.43
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; positive regulation of cell proliferation; positive regulation of estrogen receptor signaling pathway; chromatin silencing; histone H3-K4 methylation; positive regulation of transcription from RNA polymerase II promoter
Disease: Kabuki Syndrome 1
Research Articles on MLL2
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Product Notes
The Human MLL2 kmt2d (Catalog #AAA9321871) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9321871 ELISA Kit recognizes Human MLL2. It is sometimes possible for the material contained within the vial of "myeloid/lymphoid or mixed-lineage leukemia 2, ELISA Kit" 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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