N-Acetyl Alpha-D-Glucosaminidase (NAGLU)

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

SPN	T621
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.

Reference

"The molecular basis of Sanfilippo syndrome type B."
Proc. Natl. Acad. Sci. U.S.A. 93:6101-6105(1996) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"Genotype-phenotype correspondence in Sanfilippo syndrome type B."
Am. J. Hum. Genet. 62:53-63(1998) [PubMed] [Europe PMC] [Abstract]

"NAGLU mutations underlying Sanfilippo syndrome type B."
Am. J. Hum. Genet. 62:64-69(1998) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"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]

"Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients."
Hum. Genet. 107:568-576(2000) [PubMed] [Europe PMC] [Abstract]

"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]

"Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B."
Hum. Mutat. 19:184-185(2002) [PubMed] [Europe PMC] [Abstract]

"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]

"Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)."
J. Med. Genet. 39:E3-E3(2002) [PubMed] [Europe PMC] [Abstract]

"Sanfilippo B syndrome: molecular defects in Greek patients."
Clin. Genet. 65:143-149(2004) [PubMed] [Europe PMC] [Abstract]

"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]

"Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)."
J. Inherit. Metab. Dis. 28:759-767(2005) [PubMed] [Europe PMC] [Abstract]