Recombinant Human WHSC1 cell lysate

• Cat.No.: WHSC1-1931HCL

Specification

• Description: 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.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: WHSC1 Wolf-Hirschhorn syndrome candidate 1 [ Homo sapiens ]
• Official Symbol: WHSC1
• Synonyms: WHSC1; Wolf-Hirschhorn syndrome candidate 1; probable histone-lysine N-methyltransferase NSD2; MMSET; NSD2; trithorax/ash1-related protein 5; nuclear SET domain-containing protein 2; IL5 promoter REII region-binding protein; multiple myeloma SET domain containing protein type III; WHS; TRX5; REIIBP; FLJ23286; KIAA1090; MGC176638
• Gene ID: 7468
• mRNA Refseq: NM_001042424
• Protein Refseq: NP_001035889
• MIM: 602952
• UniProt ID: O96028
• Chromosome Location: 4p16.3
• Pathway: Lysine degradation, organism-specific biosystem; Lysine degradation, conserved biosystem; Transcriptional misregulation in cancer, organism-specific biosystem; Transcriptional misregulation in cancer, conserved biosystem
• Function: DNA binding; histone-lysine N-methyltransferase activity; metal ion binding; methyltransferase activity; transferase activity; zinc ion binding