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N-Sulfoglucosamine Sulfohydrolase (SGSH)

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HSS; MPS3A; SFMD; Sulfamidase; Sulfoglucosamine sulfamidase

N-Sulfoglucosamine Sulfohydrolase (SGSH)
CCC H178
HGNC 10818
MGI 1350341
PubMed 18407553
UniProt P51688
Wiki SGSH
A number sign is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.
The Sanfilippo syndrome 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. Type A has been reported to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH178Hu01 Recombinant N-Sulfoglucosamine Sulfohydrolase (SGSH) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH178Hu01 Polyclonal Antibody to N-Sulfoglucosamine Sulfohydrolase (SGSH) WB; IHC; ICC; IP.
MAH178Hu21 Monoclonal Antibody to N-Sulfoglucosamine Sulfohydrolase (SGSH) WB; IHC; ICC; IP.
LAH178Hu71 Biotin-Linked Polyclonal Antibody to N-Sulfoglucosamine Sulfohydrolase (SGSH) WB; IHC; ICC.
Assay Kits SEH178Hu ELISA Kit for N-Sulfoglucosamine Sulfohydrolase (SGSH) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH178Mu01 Recombinant N-Sulfoglucosamine Sulfohydrolase (SGSH) Positive Control; Immunogen; SDS-PAGE; WB.
RPH178Mu02 Recombinant N-Sulfoglucosamine Sulfohydrolase (SGSH) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH178Mu01 Polyclonal Antibody to N-Sulfoglucosamine Sulfohydrolase (SGSH) WB; IHC; ICC; IP.
PAH178Mu02 Polyclonal Antibody to N-Sulfoglucosamine Sulfohydrolase (SGSH) WB; IHC; ICC; IP.
Assay Kits SEH178Mu ELISA Kit for N-Sulfoglucosamine Sulfohydrolase (SGSH) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome."Nat. Genet. 11:465-467(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "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]
  4. "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  7. "Molecular defects in Sanfilippo syndrome type A."Hum. Mol. Genet. 6:787-791(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Novel mutations in Sanfilippo A syndrome: implications for enzyme function."Hum. Mol. Genet. 6:1573-1579(1997) [PubMed] [Europe PMC] [Abstract]
  9. "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)."Hum. Mutat. 10:479-485(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations."Hum. Mutat. 11:313-320(1998) [PubMed] [Europe PMC] [Abstract]
  11. "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients."Hum. Mutat. 12:274-279(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations."J. Med. Genet. 37:704-707(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)."Clin. Genet. 61:192-197(2002) [PubMed] [Europe PMC] [Abstract]
  14. "Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B."Hum. Mutat. 19:184-185(2002) [PubMed] [Europe PMC] [Abstract]
  15. "Analysis of Sanfilippo A gene mutations in a large pedigree."Clin. Genet. 63:314-318(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A."Hum. Mutat. 23:559-566(2004) [PubMed] [Europe PMC] [Abstract]
  17. "An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene."Am. J. Med. Genet. A 133:85-89(2005) [PubMed] [Europe PMC] [Abstract]
  18. "Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene."J. Inherit. Metab. Dis. 28:601-602(2005) [PubMed] [Europe PMC] [Abstract]
  19. "Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA."Hum. Genet. 119:679-679(2006) [PubMed] [Europe PMC] [Abstract]
  20. "Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders."Hum. Reprod. 21:670-684(2006) [PubMed] [Europe PMC] [Abstract]
  21. "The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)."Hum. Mutat. 29:770-770(2008) [PubMed] [Europe PMC] [Abstract]
  22. "Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome."Am. J. Med. Genet. A 155A:1634-1639(2011) [PubMed] [Europe PMC] [Abstract]