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SGSH

From Wikipedia, the free encyclopedia
SGSH
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesSGSH, HSS, MPS3A, SFMD, N-sulfoglucosamine sulfohydrolase
External IDsOMIM: 605270; MGI: 1350341; HomoloGene: 167; GeneCards: SGSH; OMA:SGSH - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000199
NM_001352921
NM_001352922

NM_018822

RefSeq (protein)

NP_000190
NP_001339850
NP_001339851

n/a

Location (UCSC)Chr 17: 80.21 – 80.22 MbChr 11: 119.23 – 119.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.[5][6]

Clinical significance

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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.[7] 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[8] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000181523Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005043Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (Dec 1995). "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nature Genetics. 11 (4): 465–7. doi:10.1038/ng1295-465. PMID 7493035. S2CID 25869397.
  6. ^ a b "Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)".
  7. ^ Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
  8. ^ van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310. S2CID 24826103.

Further reading

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