Rabbit anti-Human KMT2D Polyclonal Antibody | anti-KMT2D antibody
KMT2D Antibody
IHC: 1:50-1:200
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 #AAA7127917) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The KMT2D Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's KMT2D can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Immunohistochemistry (IHC). ELISA: 1:2000-1:5000 IHC: 1:50-1:200. Researchers should empirically determine the suitability of the KMT2D kmt2d for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "KMT2D, Polyclonal Antibody" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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