Anti-KMT2D / MLL2 Antibody (N-Terminus) IHC-plus; KMT2D; AAD10; ALL1-related protein; KABUK1; KMS; Lysine N-methyltransferase 2D; MLL2; Kabuki make-up syndrome; ALR; CAGL114; KMT2B; Lysine N-methyltransferase 2B; TNRC21; Human KMT2D; MLL2

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

Polyclonal

Goat

Human MLL2. The immunizing peptide was designed from NP_003473.1. Since then the sequence has changed in the databases and currently differs at two locations in NP_003473.3.

Immunoaffinity Purified

Tris-buffered saline, pH 7.3, 0.5% BSA, 0.02% sodium azide

0.5 mg/ml (lot specific)

Store at -20 degree C. Minimize freezing and thawing.

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.

Immunohistochemistry (IHC - Paraffin), ELISA (EIA)

ELISA (1:16000), IHC-P (3.75 ug/ml)

Anti-MLL2 antibody IHC of human spleen. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody dilution 3.75 ug/ml.

593,677 Da

lysine (K)-specific methyltransferase 2D

histone-lysine N-methyltransferase 2D; ALL1-related protein; Kabuki make-up syndrome; Kabuki mental retardation syndrome; trinucleotide repeat containing 21; histone-lysine N-methyltransferase MLL2; myeloid/lymphoid or mixed-lineage leukemia 2

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: 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

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