Human Probable histone-lysine N-methyltransferase NSD2 ELISA Kit | WHSC1 elisa kit
Human Probable histone-lysine N-methyltransferase NSD2 (WHSC1) ELISA Kit
Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.
Inter-assay Precision (Precision between assays)
Three samples of known concentration were tested in forty separate assays to assess inter-assay precision.
CV (%) = SD/meanX100
Intra-Assay: CV
Inter-Assay: CV
NCBI and Uniprot Product Information
NCBI 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. [provided by RefSeq, Jul 2008]
Uniprot Description
WHSC1: a SET domain-containing protein lysine methyltransferase that is expressed normally in early development. Catalyzes the dimethylation of H3K36; H3K36me2 is associated with regions that are transcriptionally active. Maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in about 15% of t(4;14) multiple myeloma cases. Patients with the t(4;14) chromosomal translocation comprise one of the worst prognostic subgroups of multiple myeloma. The t(4;14) translocation results in overexpression of WHSC1 and of FGFR3 due to the placement of the strong immunoglobulin H intronic Emu enhancer and 3-prime enhancer in the promoter regions of WHSC1 and FGFR3 genes, respectively. 100% of t(4;14) patients retain overexpression of WHSC1, while 30% have lost expression of FGFR3, suggesting that WHSC1 and not FGFR3 may the primary driver of the disease. Seven alternatively spliced isoforms of the human protein have been reported.
Protein type: Amino Acid Metabolism - lysine degradation; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Oncoprotein; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: chromosome; cytoplasm; nucleoplasm; nucleus
Molecular Function: chromatin binding; histone lysine N-methyltransferase activity (H4-K20 specific); histone-lysine N-methyltransferase activity; metal ion binding; protein binding; sequence-specific DNA binding
Biological Process: anatomical structure morphogenesis; atrial septum primum morphogenesis; atrial septum secundum morphogenesis; double-strand break repair via nonhomologous end joining; histone H3-K36 methylation; histone H4-K20 methylation; membranous septum morphogenesis; negative regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgA isotypes; regulation of double-strand break repair via nonhomologous end joining; transcription, DNA-dependent
Disease: Wolf-hirschhorn Syndrome
Research Articles on WHSC1
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Product Notes
The Human WHSC1 nsd2 (Catalog #AAA282523) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA282523 ELISA Kit recognizes Human WHSC1. It is sometimes possible for the material contained within the vial of "Probable histone-lysine N-methyltransferase NSD2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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