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The product of GNS is a lysosomal enzyme found in all cells. Additionally we are shipping Glucosamine (N-Acetyl)-6-Sulfatase Proteins (7) and many more products for this protein.
Showing 10 out of 53 products:
Human Monoclonal GNS Primary Antibody for ELISA - ABIN1996381
Elçioglu, Pawlik, Colak, Beck, Wollnik: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. in Genetic counseling (Geneva, Switzerland) 2009
Show all 3 references for ABIN1996381
Human Polyclonal GNS Primary Antibody for IP, ELISA - ABIN1996387
Beesley, Burke, Jackson, Vellodi, Winchester, Young: Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. in Journal of medical genetics 2003
Show all 2 references for ABIN1996387
Cow (Bovine) Polyclonal GNS Primary Antibody for WB - ABIN2782155
Jansen, Cao, Kaplan, Silver, Leonard, De Meirleir, Lissens, Liebaers, Veilleux, Andermann, Hegele, Andermann: Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. in Archives of neurology 2007
Human Polyclonal GNS Primary Antibody for EIA, WB - ABIN453065
Zhang, Li, Martin, Aebersold: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. in Nature biotechnology 2003
Sanfilippo syndrome type D has 3 (show HAS3 Antibodies) novel mutations in the GNS Gene.
We identified the novel homozygous single base pair insertion, c.1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X).
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.
glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID)
, glucosamine (N-acetyl)-6-sulfatase
, glucosamine (N-acetyl)-6-sulfatase b