Rabbit anti-Human GNS Monoclonal Antibody | anti-GNS antibody

Recombinant Anti-GNS Antibody, Rabbit Monoclonal

Cat. Num. AAA8102252

• Gene Names: GNS; G6S
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Protein A
• Synonyms: GNS; Monoclonal Antibody; Recombinant Anti-GNS Antibody; Rabbit Monoclonal; Glucosamine (N-acetyl)-6-Sulfatase/G6S Antibody; Rabbit MAb; glucosamine (N-acetyl)-6-sulfatase; Anti-G6S Antibody; anti-GNS antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: Rabbit IgG
• Clone Number: 007
• Specificity: Human GNS/G6S
• Purity/Purification: Protein A
• Form/Format: Liquid; 0.2um filtered solution in PBS

• Applicable Applications for anti-GNS antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:500-1:2000; ELISA: 1:5000-1:10,000
• Antibody Type: Recombinant Antibody
• Immunogen: Recombinant Human GNS protein
• Conjugation: Unconjugated
• Preparation: This antibody was obtained from a rabbit immunized with purified, recombinant Human GNS/G6S (rhGNS).
• Preparation and Storage: This antibody can be stored at 2-8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Preservative-Free. Avoid repeated freeze-thaw cycles.

Western Blot (WB)

(Anti-GNS rabbit monoclonal antibody at 1:500 dilutionLane A: PC3 Whole Cell LysateLysates/proteins at 30 ug per lane.SecondaryGoat Anti-Rabbit IgG H&L (Dylight800) at 1/10000 dilution.Developed using the Odyssey technique. Performed under reducing conditions.Predicted band size:62 kDaObserved band size:95 kDa)

Related Product Information for anti-GNS antibody

Glucosamine (N-acetyl)-6-sulfatase (GNS), also known as G6S, a hydrolase, which is one of the enzymes involved in heparan sulfate catabolism leading to lysosomal storage. GNS is required for the catabolism of the glycosaminoglycans (GAG) including heparin, heparan sulfate, and keratan sulfate through the hydrolysis of the 6-sulfate group from the N-acetyl-D-glucosamine 6-sulfate units. Mucopolysaccharidosis type IIID (MPS IIID) is the least common of the four subtypes of Sanfilippo syndrome. It is caused by a deficiency of N-acetylglucosamine-6-sulphatase. A mutation in GNS resulting in MPS IIID indicates the potential utility of molecular identification for this rare condition. As the least common type of the four subtypes of Sanfilippo syndrome, MPS IIID has profound mental deterioration, hyperactivity, and relatively mild somatic manifestations.

References

Fuchs W, et al. (1985) Intralysosomal formation and metabolic fate of N-acetylglucosamine 6-sulfate from keratan sulfate. Eur J Biochem. 151(3): 551-6.Beesley CE, et al. (2003) Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. J Med Genet. 40(3): 192-4.Mok A, et al. (2003) Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics. 81(1): 1-5.Elioglu NH, et al. (2009) A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. Genet Couns. 20(2): 133-9.

NCBI and Uniprot Product Information

• NCBI GI #: 4504061
• NCBI GeneID: 2799
• NCBI Accession #: NP_002067.1
• NCBI GenBank Nucleotide #: NM_002076.3
• UniProt Accession #: P15586; Q53F05
• Molecular Weight: 62,082 Da
• NCBI Official Full Name: N-acetylglucosamine-6-sulfatase
• NCBI Official Synonym Full Names: glucosamine (N-acetyl)-6-sulfatase
• NCBI Official Symbol: GNS
• NCBI Official Synonym Symbols: G6S
• NCBI Protein Information: N-acetylglucosamine-6-sulfatase
• UniProt Protein Name: N-acetylglucosamine-6-sulfatase
• Protein Family: Protein
• UniProt Gene Name: GNS
• UniProt Synonym Gene Names: G6S
• UniProt Entry Name: GNS_HUMAN

Uniprot Description

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