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Upingbio
SKU:YP-Ab-00089-53UL
NSD1 Monoclonal Antibody
NSD1 Monoclonal Antibody
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- Reaction species: Human
- Gene Name: NSD1
- Protein name: Histone-lysine N-methyltransferase H3 lysine-36 and H4 lysine-20 specific
- Immunogen: Purified recombinant human NSD1 protein fragments expressed in E.coli.
- Specificity: NSD1 Monoclonal Antibody detects endogenous levels of NSD1 protein.
- Composition: Purified mouse monoclonal in buffer containing 0.1M Tris-Glycine (pH 7.4, 150 mM NaCl) with 0.2% sodium azide, 50% glycerol.
- Source: Monoclonal, Mouse
- Dilution ratio: Western Blot: 1/1000 - 1/2000. Not yet tested in other applications.
- Purification process: Affinity purification
- Concentration: mg/ml
- Storage: -20°C/1 year
- Other Names: NSD1; ARA267; KMT3B; Histone-lysine N-methyltransferase; H3 lysine-36 and H4 lysine-20 specific; Androgen receptor coactivator 267 kDa protein; Androgen receptor-associated protein of 267 kDa; H3-K36-HMTase; H4-K20-HMTase; Lysine N-methyltr
- Background: This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isofo
- Function: catalytic activity:S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.,disease:A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.,disease:A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.,disease:Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.,disease:Defects in NSD1 are the cause of Sotos syndrome [MIM:117550]; also kn
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