A number sign is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH).
The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.
The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease.
Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Type A has been reported to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.
Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:50-400Immunocytochemistry: 1:50-500Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100ELISA: 1:100-1:5000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes human SGSH.
Isotype：IgG
Calc Applications Abbrev：E IC IHC WB
Calc Crossreactivity：Hu
Immunogen：Recombinant protein corresponding to Arg21-Asn389 of human SGSH, fused to His-Tag and GST-tag at N-terminal expressed in E. coli.
