"WHSC1" Related Products

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Recombinant Human Wolf-Hirschhorn Syndrome Candidate 1, GST-tagged

Cat. No.: WHSC1-429H
Product Overview: Recombinant Human NSD2 (MMSET) (amino-acids 941-1240), with N-terminal GST tag expressed inE.Coliexpression system. MW = 62kDa.
Description: Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the WHSC1 gene. This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.
Source: E.Coli.
Purity: >65%.
Application: Useful for the study of enzyme kinetics, screening inhibitors, and selectivity profiling.
Formulated In: 25 mM Tris-HCl, pH 8.0, 100 mM NaCl, 0.05% Tween-20, 30% glycerol, and 3 mM DTT.
Stability: >6 months at –80°C.
Gene Name: EHMT2 euchromatic histone-lysine N-methyltransferase 2 [ Homo sapiens ]
Synonyms: WHSC1; Wolf-Hirschhorn syndrome candidate 1; IL5 promoter REII region-binding protein; OTTHUMP00000196943; Wolf-Hirschhorn syndrome candidate 1 protein; multiple myeloma SET domain containing protein type III; trithorax/ash1-related protein 5; WHS; NSD2; TRX5; MMSET; REIIBP; FLJ23286; KIAA1090; MGC176638; EC 2.1.1.43
Gene ID: 7468
mRNA Refseq: NM_001042424
Protein Refseq: NP_001035889
MIM: 602952
UniProt ID: O96028
Chromosome Location: 4p16.3
Pathway: Lysine degradation
Function: DNA binding; histone-lysine N-methyltransferase activity; methyltransferase activity; protein binding; transferase activity; zinc ion binding

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