Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)

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HGNAT; MPS3C; TMEM76; Transmembrane Protein 76

Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)
HGSNAT and the mouse ortholog and demonstrated that it is the gene that encodes the lysosomal N-acetyltransferase. HGSNAT did not show structural similarity to any known prokaryotic or eukaryotic N-acetyltransferase or to other lysosomal proteins, on the basis of sequence homology searches. The authors suggested that this enzyme belongs to a new structural class of proteins that transport the activated acetyl residues across the cell membrane.
The deduced 656-amino acid protein with a calculated molecular mass of 73 kD contains an N-terminal signal peptide, 4 putative N-glycosylation sites, and 11 transmembrane domains. Topology modeling predicted the N terminus to be inside the lysosome and the C terminus to be cytosolic.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)CLIA Kit Customized Service Offer
n/aELISA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)CLIA Kit Customized Service Offer
n/aELISA Kit for Heparan Alpha Glucosaminide-N-Acetyltransferase (HGSNAT)ELISA Kit Customized Service Offer
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  2. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)."Am. J. Hum. Genet. 79:738-744(2006) [PubMed] [Europe PMC] [Abstract]
  5. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  6. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  7. "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]
  8. "Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C."PLoS ONE 4:E7434-E7434(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC."J. Biol. Chem. 285:31233-31242(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)." Am. J. Hum. Genet. 79:807-819(2006) [PubMed] [Europe PMC] [Abstract]
  12. "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online."Hum. Mutat. 28:523-523(2007) [PubMed] [Europe PMC] [Abstract]
  13. "Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands."Mol. Genet. Metab. 93:104-111(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene."Hum. Mutat. 30:918-925(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)."Hum. Mutat. 31:E1574-E1586(2010) [PubMed] [Europe PMC] [Abstract]