BackgroundThis 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.
DescriptionWHSC1 Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
SpecificityHuman, Mouse
IsotypeIgG
Uniprot IDO96028
PurificationAffinity Purification
ImmunogenRecombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human WHSC1 (NP_579877.1).
StorageShipped at 4°C. Upon receipt, store at -20°C. Avoid freeze / thaw cycles
Alternative NamesNSD2; KMT3F; KMT3G; MMSET; REIIBP; TRX5; WHS; WHSC1; histone-lysine N-methyltransferase NSD2
ApplicationWB, IHC; Recommended dilution: WB 1:500 - 1:2000, IHC 1:50 - 1:200