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]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000181523 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000005043 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^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.
^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 readingedit
Yogalingam G, Hopwood JJ (Oct 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611. S2CID 25731955.
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.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ (Aug 1996). "Structure and sequence of the human sulphamidase gene". DNA Research. 3 (4): 269–71. doi:10.1093/dnares/3.4.269. PMID 8946167.
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ (May 1997). "Molecular defects in Sanfilippo syndrome type A". Human Molecular Genetics. 6 (5): 787–91. doi:10.1093/hmg/6.5.787. PMID 9158154.
Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ (Sep 1997). "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Human Molecular Genetics. 6 (9): 1573–9. doi:10.1093/hmg/6.9.1573. PMID 9285796.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A (1998). "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Human Mutation. 10 (6): 479–85. doi:10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. PMID 9401012. S2CID 41252897.
Bielicki J, Hopwood JJ, Melville EL, Anson DS (Jan 1998). "Recombinant human sulphamidase: expression, amplification, purification and characterization". The Biochemical Journal. 329 (Pt 1): 145–50. doi:10.1042/bj3290145. PMC1219025. 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". Human Mutation. 11 (4): 313–20. doi:10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. PMID 9554748. S2CID 22780764.
Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ (Jun 1998). "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". Journal of Inherited Metabolic Disease. 21 (4): 416–22. doi:10.1023/A:1005362826552. PMID 9700599. S2CID 9346499.
Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D (1998). "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Human Mutation. 12 (4): 274–9. doi:10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. PMID 9744479. S2CID 23900430.
Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R (Oct 1999). "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenatal Diagnosis. 19 (10): 993–4. doi:10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L. PMID 10521831. S2CID 28276965.
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.
Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L (May 2001). "Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation". American Journal of Medical Genetics. 100 (3): 223–8. doi:10.1002/ajmg.1248. PMID 11343308.
Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ (Feb 2002). "Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B". Human Mutation. 19 (2): 184–5. doi:10.1002/humu.9009. PMID 11793481. S2CID 35508263.
Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A (Apr 2003). "Analysis of Sanfilippo A gene mutations in a large pedigree". Clinical Genetics. 63 (4): 314–8. doi:10.1034/j.1399-0004.2003.00053.x. PMID 12702166. S2CID 39262556.
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.
sgsh, sulphoglucosamine, sulphohydrolase, enzyme, that, humans, encoded, gene, available, structurespdbhuman, uniprot, search, pdbe, rcsblist, codes4mhx, 4mividentifiersaliases, mps3a, sfmd, sulfoglucosamine, sulfohydrolaseexternal, idsomim, 605270, 1350341, h. N sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene 5 6 SGSHAvailable structuresPDBHuman UniProt search PDBe RCSBList of PDB id codes4MHX 4MIVIdentifiersAliasesSGSH HSS MPS3A SFMD N sulfoglucosamine sulfohydrolaseExternal IDsOMIM 605270 MGI 1350341 HomoloGene 167 GeneCards SGSHGene location Human Chr Chromosome 17 human 1 Band17q25 3Start80 206 716 bp 1 End80 220 923 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 E2 11 83 36 cMStart119 234 251 bp 2 End119 246 362 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inleft adrenal glandspleenstromal cell of endometriumright uterine tuberight lobe of thyroid glandleft lobe of thyroid glandgastric mucosaminor salivary glandanterior pituitaryupper lobe of left lungTop expressed inPaneth cellirisrenal corpusclespleencalvariasubcutaneous adipose tissueadrenal glandbloodyolk sacwhite adipose tissueMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsulfuric ester hydrolase activity hydrolase activity metal ion binding catalytic activity N sulfoglucosamine sulfohydrolase activityCellular componentlysosomal lumen extracellular exosome lysosomeBiological processmetabolism glycosaminoglycan catabolic process heparan sulfate proteoglycan catabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez644827029EnsemblENSG00000181523ENSMUSG00000005043UniProtP51688n aRefSeq mRNA NM 000199NM 001352921NM 001352922NM 018822RefSeq protein NP 000190NP 001339850NP 001339851n aLocation UCSC Chr 17 80 21 80 22 MbChr 11 119 23 119 25 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseClinical significance editA 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 edit a b c GRCh38 Ensembl release 89 ENSG00000181523 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000005043 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 a b Entrez Gene SGSH N sulfoglucosamine sulfohydrolase sulfamidase 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 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 editYogalingam G Hopwood JJ Oct 2001 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB Diagnostic clinical and biological implications Human Mutation 18 4 264 81 doi 10 1002 humu 1189 PMID 11668611 S2CID 25731955 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 Maruyama K Sugano S Jan 1994 Oligo capping a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides Gene 138 1 2 171 4 doi 10 1016 0378 1119 94 90802 8 PMID 8125298 Karageorgos LE Guo XH Blanch L Weber B Anson DS Scott HS Hopwood JJ Aug 1996 Structure and sequence of the human sulphamidase gene DNA Research 3 4 269 71 doi 10 1093 dnares 3 4 269 PMID 8946167 Blanch L Weber B Guo XH Scott HS Hopwood JJ May 1997 Molecular defects in Sanfilippo syndrome type A Human Molecular Genetics 6 5 787 91 doi 10 1093 hmg 6 5 787 PMID 9158154 Weber B Guo XH Wraith JE Cooper A Kleijer WJ Bunge S Hopwood JJ Sep 1997 Novel mutations in Sanfilippo A syndrome implications for enzyme function Human Molecular Genetics 6 9 1573 9 doi 10 1093 hmg 6 9 1573 PMID 9285796 Suzuki Y Yoshitomo Nakagawa K Maruyama K Suyama A Sugano S Oct 1997 Construction and characterization of a full length enriched and a 5 end enriched cDNA library Gene 200 1 2 149 56 doi 10 1016 S0378 1119 97 00411 3 PMID 9373149 Bunge S Ince H Steglich C Kleijer WJ Beck M Zaremba J van Diggelen OP Weber B Hopwood JJ Gal A 1998 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA Sanfilippo A Human Mutation 10 6 479 85 doi 10 1002 SICI 1098 1004 1997 10 6 lt 479 AID HUMU10 gt 3 0 CO 2 X PMID 9401012 S2CID 41252897 Bielicki J Hopwood JJ Melville EL Anson DS Jan 1998 Recombinant human sulphamidase expression amplification purification and characterization The Biochemical Journal 329 Pt 1 145 50 doi 10 1042 bj3290145 PMC 1219025 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 Human Mutation 11 4 313 20 doi 10 1002 SICI 1098 1004 1998 11 4 lt 313 AID HUMU9 gt 3 0 CO 2 P PMID 9554748 S2CID 22780764 Weber B van de Kamp JJ Kleijer WJ Guo XH Blanch L van Diggelen OP Wevers R Poorthuis BJ Hopwood JJ Jun 1998 Identification of a common mutation R245H in Sanfilippo A patients from The Netherlands Journal of Inherited Metabolic Disease 21 4 416 22 doi 10 1023 A 1005362826552 PMID 9700599 S2CID 9346499 Montfort M Vilageliu L Garcia Giralt N Guidi S Coll MJ Chabas A Grinberg D 1998 Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients Human Mutation 12 4 274 9 doi 10 1002 SICI 1098 1004 1998 12 4 lt 274 AID HUMU9 gt 3 0 CO 2 F PMID 9744479 S2CID 23900430 Di Natale P Villani GR Esposito S Balzano N Filocamo M Gatti R Oct 1999 Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele Prenatal Diagnosis 19 10 993 4 doi 10 1002 SICI 1097 0223 199910 19 10 lt 993 AID PD661 gt 3 0 CO 2 L PMID 10521831 S2CID 28276965 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 Chabas A Montfort M Martinez Campos M Diaz A Coll MJ Grinberg D Vilageliu L May 2001 Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients possible single origin for 1091delC mutation American Journal of Medical Genetics 100 3 223 8 doi 10 1002 ajmg 1248 PMID 11343308 Emre S Terzioglu M Tokatli A Coskun T Ozalp I Weber B Hopwood JJ Feb 2002 Sanfilippo syndrome in Turkey Identification of novel mutations in subtypes A and B Human Mutation 19 2 184 5 doi 10 1002 humu 9009 PMID 11793481 S2CID 35508263 Di Natale P Villani GR Di Domenico C Daniele A Dionisi Vici C Bartuli A Apr 2003 Analysis of Sanfilippo A gene mutations in a large pedigree Clinical Genetics 63 4 314 8 doi 10 1034 j 1399 0004 2003 00053 x PMID 12702166 S2CID 39262556 nbsp This article on a gene on human chromosome 17 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SGSH amp oldid 1184129084, wikipedia, wiki, book, books, library,
