GNS, Polyclonal Antibody

G6S

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Affinity Purification

1mg/ml (lot specific)

Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles.
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Small volumes of anti-GNS antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Polyclonal

Western Blot (WB), Immunohistochemistry (IHC)

WB: 1:500-1:2000
IHC: 1:50-1:200

Western blot analysis of extracts of 293T cells, using GNS antibody.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.

552

glucosamine (N-acetyl)-6-sulfatase

N-acetylglucosamine-6-sulfatase

N-acetylglucosamine-6-sulfatase

G6S  [Similar Products]

GNS_HUMAN

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. [provided by RefSeq, Jul 2008]

GNS: Defects in GNS are the cause of mucopolysaccharidosis type 3D (MPS3D); also known as Sanfilippo D syndrome. MPS3D is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 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. Belongs to the sulfatase family.

Protein type: EC 3.1.6.14; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation

Chromosomal Location of Human Ortholog: 12q14

Cellular Component: lysosomal lumen

Molecular Function: protein binding; N-acetylglucosamine-6-sulfatase activity; sulfuric ester hydrolase activity; metal ion binding

Biological Process: keratan sulfate metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; keratan sulfate catabolic process

Disease: Mucopolysaccharidosis, Type Iiid

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