SGSH
| N-sulfoglucosamine sulfohydrolase (sulfamidase) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | SGSH ; HSS; MPS3A; SFMD | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 167 | ||||||||||
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| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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N-sulfoglucosamine sulfohydrolase (sulfamidase), also known as SGSH, is a human gene.[1]
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][1]
References
Further reading
- Yogalingam G, Hopwood JJ (2002). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Hum. Mutat. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611.
- van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (1982). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clin. Genet. 20 (2): 152–60. PMID 6796310.
- Scott HS, Blanch L, Guo XH; et al. (1996). "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nat. Genet. 11 (4): 465–7. doi:10.1038/ng1295-465. PMID 7493035.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Karageorgos LE, Guo XH, Blanch L; et al. (1997). "Structure and sequence of the human sulphamidase gene". DNA Res. 3 (4): 269–71. PMID 8946167.
- Blanch L, Weber B, Guo XH; et al. (1997). "Molecular defects in Sanfilippo syndrome type A.". Hum. Mol. Genet. 6 (5): 787–91. PMID 9158154.
- Weber B, Guo XH, Wraith JE; et al. (1998). "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Hum. Mol. Genet. 6 (9): 1573–9. PMID 9285796.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Bunge S, Ince H, Steglich C; et al. (1998). "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Hum. Mutat. 10 (6): 479–85. doi:10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. PMID 9401012.
- Bielicki J, Hopwood JJ, Melville EL, Anson DS (1998). "Recombinant human sulphamidase: expression, amplification, purification and characterization". Biochem. J. 329 ( Pt 1): 145–50. PMID 9405287.
- Di Natale P, Balzano N, Esposito S, Villani GR (1998). "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations". Hum. Mutat. 11 (4): 313–20. doi:10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. PMID 9554748.
- Weber B, van de Kamp JJ, Kleijer WJ; et al. (1998). "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". J. Inherit. Metab. Dis. 21 (4): 416–22. PMID 9700599.
- Montfort M, Vilageliu L, Garcia-Giralt N; et al. (1998). "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Hum. Mutat. 12 (4): 274–9. doi:10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. PMID 9744479.
- Di Natale P, Villani GR, Esposito S; et al. (1999). "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenat. Diagn. 19 (10): 993–4. PMID 10521831.
- Esposito S, Balzano N, Daniele A; et al. (2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochim. Biophys. Acta. 1501 (1): 1–11. PMID 10727844.
- Chabás A, Montfort M, Martínez-Campos M; et al. (2001). "Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation". Am. J. Med. Genet. 100 (3): 223–8. PMID 11343308.
- Emre S, Terzioglu M, Tokatli A; et al. (2002). "Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.". Hum. Mutat. 19 (2): 184–5. doi:10.1002/humu.9009. PMID 11793481.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Di Natale P, Villani GR, Di Domenico C; et al. (2004). "Analysis of Sanfilippo A gene mutations in a large pedigree". Clin. Genet. 63 (4): 314–8. PMID 12702166.
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