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N-Acetyl Alpha-D-Glucosaminidase (NAGLU)

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NAG; UFHSD1; NAGLU; Sanfilippo Disease IIIB; N-Acetylglucosaminidase,Alpha

N-Acetyl Alpha-D-Glucosaminidase (NAGLU)
CCC D161
HGNC 7632
MGI 1351641
PubMed 9443878
UniProt P54802
Wiki NAGLU

Weber et al. (1996) reported the cloning of the NAGLU gene by enzyme protein purification, amino acid sequence determination, and database searches. A TFASTA search aligned the amino acid sequence to sequence in the 5-prime flanking region of the 17-beta-hydroxysteroid dehydrogenase-1 gene (HSD17B1), and this sequence was used to screen cDNA libraries.

Northern blot analysis showed a single 2.7-kb mRNA transcript with high expression levels in liver, ovary, and peripheral blood leukocytes and measurable amounts of transcript in other tissues. The full-length cDNA sequence was cloned into an expression vector, and cultured CHO cells transfected with this vector showed a 17-fold increase in enzyme expression.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD161Hu01 Recombinant N-Acetyl Alpha-D-Glucosaminidase (NAGLU) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD161Hu01 Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB,IHC
MAD161Hu21 Monoclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC; IP.
Assay Kits SED161Hu ELISA Kit for N-Acetyl Alpha-D-Glucosaminidase (NAGLU) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD161Mu01 Recombinant N-Acetyl Alpha-D-Glucosaminidase (NAGLU) Positive Control; Immunogen; SDS-PAGE; WB.
RPD161Mu02 Recombinant N-Acetyl Alpha-D-Glucosaminidase (NAGLU) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD161Mu01 Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC; IP.
LAD161Mu81 FITC-Linked Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC; IF.
LAD161Mu71 Biotin-Linked Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC.
PAD161Mu02 Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for N-Acetyl Alpha-D-Glucosaminidase (NAGLU) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetyl Alpha-D-Glucosaminidase (NAGLU) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD161Ra01 Recombinant N-Acetyl Alpha-D-Glucosaminidase (NAGLU) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD161Ra01 Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC; IP.
LAD161Ra81 FITC-Linked Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC; IF.
LAD161Ra71 Biotin-Linked Polyclonal Antibody to N-Acetyl Alpha-D-Glucosaminidase (NAGLU) WB; IHC; ICC.
Assay Kits n/a CLIA Kit for N-Acetyl Alpha-D-Glucosaminidase (NAGLU) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetyl Alpha-D-Glucosaminidase (NAGLU) ELISA Kit Customized Service Offer
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  2. "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)."Hum. Mol. Genet. 5:771-777(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms."Mamm. Genome 7:686-690(1996) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
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  9. "Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)."J. Med. Genet. 35:910-914(1998) [PubMed] [Europe PMC] [Abstract]
  10. "Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations."J. Med. Genet. 36:28-31(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes."Eur. J. Hum. Genet. 7:34-44(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient."Biochim. Biophys. Acta 1502:415-425(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients."Hum. Genet. 107:568-576(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations."J. Inherit. Metab. Dis. 24:83-84(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B."Hum. Mutat. 19:184-185(2002) [PubMed] [Europe PMC] [Abstract]
  16. "Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations."J. Hum. Genet. 47:484-487(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)."J. Med. Genet. 39:E3-E3(2002) [PubMed] [Europe PMC] [Abstract]
  18. "Sanfilippo B syndrome: molecular defects in Greek patients."Clin. Genet. 65:143-149(2004) [PubMed] [Europe PMC] [Abstract]
  19. "Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan."J. Hum. Genet. 50:357-359(2005) [PubMed] [Europe PMC] [Abstract]
  20. "Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)."J. Inherit. Metab. Dis. 28:759-767(2005) [PubMed] [Europe PMC] [Abstract]