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.
Dilutions
WB 1:500 - 1:2000
Format
Calculated MW
59kDa/62kDa
Observed MW
62kDa
Immunogen
Recombinant fusion protein containing a sequence corresponding to amino acids 293-552 of human GNS (NP_002067.1).
Modification
Unmodified
Storage
-20°C
Images
Western blot analysis of extracts of various cell lines, using GNS antibody (144-07489) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit. Exposure time: 30s.
Expiration:
12 months from the date of shipment when stored properly.
