NAGLU Antibody (monoclonal) (M02)
Mouse monoclonal antibody raised against a partial recombinant NAGLU.
|Calculated MW||82266 Da|
|Other Names||Alpha-N-acetylglucosaminidase, N-acetyl-alpha-glucosaminidase, NAG, Alpha-N-acetylglucosaminidase 82 kDa form, Alpha-N-acetylglucosaminidase 77 kDa form, NAGLU, UFHSD1|
|Target/Specificity||NAGLU (NP_000254, 644 a.a. ~ 742 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||NAGLU Antibody (monoclonal) (M02) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). Champion KJ, et al. Mol Genet Metab, 2010 May. PMID 20138557.Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. Mangas M, et al. Clin Genet, 2008 Mar. PMID 18218046.Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. Chinen Y, et al. J Hum Genet, 2005. PMID 15933803.The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Clark AG, et al. Science, 2003 Dec 12. PMID 14671302.
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