SGSH

N-sulfoglucosamine sulfohydrolase (sulfamidase), also known as SGSH, is a human gene.cite web | title = Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6448| accessdate = ]

PBB_Summary
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summary_text = A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al, 2000 [PubMed 10727844] ). MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). 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 (van de Kamp et al., 1981 [PubMed 6796310] ) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. [supplied by OMIM] cite web | title = Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6448| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Yogalingam G, Hopwood JJ |title=Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 264–81 |year= 2002 |pmid= 11668611 |doi= 10.1002/humu.1189
*cite journal | author=van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA |title=Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). |journal=Clin. Genet. |volume=20 |issue= 2 |pages= 152–60 |year= 1982 |pmid= 6796310 |doi=
*cite journal | author=Scott HS, Blanch L, Guo XH, "et al." |title=Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. |journal=Nat. Genet. |volume=11 |issue= 4 |pages= 465–7 |year= 1996 |pmid= 7493035 |doi= 10.1038/ng1295-465
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Karageorgos LE, Guo XH, Blanch L, "et al." |title=Structure and sequence of the human sulphamidase gene. |journal=DNA Res. |volume=3 |issue= 4 |pages= 269–71 |year= 1997 |pmid= 8946167 |doi=
*cite journal | author=Blanch L, Weber B, Guo XH, "et al." |title=Molecular defects in Sanfilippo syndrome type A. |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 787–91 |year= 1997 |pmid= 9158154 |doi=
*cite journal | author=Weber B, Guo XH, Wraith JE, "et al." |title=Novel mutations in Sanfilippo A syndrome: implications for enzyme function. |journal=Hum. Mol. Genet. |volume=6 |issue= 9 |pages= 1573–9 |year= 1998 |pmid= 9285796 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Bunge S, Ince H, Steglich C, "et al." |title=Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). |journal=Hum. Mutat. |volume=10 |issue= 6 |pages= 479–85 |year= 1998 |pmid= 9401012 |doi= 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X |doilabel=10.1002/(SICI)1098-1004(1997)10:6479::AID-HUMU103.0.CO;2-X
*cite journal | author=Bielicki J, Hopwood JJ, Melville EL, Anson DS |title=Recombinant human sulphamidase: expression, amplification, purification and characterization. |journal=Biochem. J. |volume=329 ( Pt 1) |issue= |pages= 145–50 |year= 1998 |pmid= 9405287 |doi=
*cite journal | author=Di Natale P, Balzano N, Esposito S, Villani GR |title=Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. |journal=Hum. Mutat. |volume=11 |issue= 4 |pages= 313–20 |year= 1998 |pmid= 9554748 |doi= 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P |doilabel=10.1002/(SICI)1098-1004(1998)11:4313::AID-HUMU93.0.CO;2-P
*cite journal | author=Weber B, van de Kamp JJ, Kleijer WJ, "et al." |title=Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. |journal=J. Inherit. Metab. Dis. |volume=21 |issue= 4 |pages= 416–22 |year= 1998 |pmid= 9700599 |doi=
*cite journal | author=Montfort M, Vilageliu L, Garcia-Giralt N, "et al." |title=Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. |journal=Hum. Mutat. |volume=12 |issue= 4 |pages= 274–9 |year= 1998 |pmid= 9744479 |doi= 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F |doilabel=10.1002/(SICI)1098-1004(1998)12:4274::AID-HUMU93.0.CO;2-F
*cite journal | author=Di Natale P, Villani GR, Esposito S, "et al." |title=Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele. |journal=Prenat. Diagn. |volume=19 |issue= 10 |pages= 993–4 |year= 1999 |pmid= 10521831 |doi=
*cite journal | author=Esposito S, Balzano N, Daniele A, "et al." |title=Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. |journal=Biochim. Biophys. Acta |volume=1501 |issue= 1 |pages= 1–11 |year= 2000 |pmid= 10727844 |doi=
*cite journal | author=Chabás A, Montfort M, Martínez-Campos M, "et al." |title=Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. |journal=Am. J. Med. Genet. |volume=100 |issue= 3 |pages= 223–8 |year= 2001 |pmid= 11343308 |doi=
*cite journal | author=Emre S, Terzioglu M, Tokatli A, "et al." |title=Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. |journal=Hum. Mutat. |volume=19 |issue= 2 |pages= 184–5 |year= 2002 |pmid= 11793481 |doi= 10.1002/humu.9009
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Di Natale P, Villani GR, Di Domenico C, "et al." |title=Analysis of Sanfilippo A gene mutations in a large pedigree. |journal=Clin. Genet. |volume=63 |issue= 4 |pages= 314–8 |year= 2004 |pmid= 12702166 |doi=

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