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词条 Galactosamine-6 sulfatase
释义

  1. References

  2. Further reading

  3. External links

{{Infobox_gene}}N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.[1][2]

This gene encodes N-acetylgalactosamine-6-sulfatase, which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans keratan sulfate and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder.[3]

References

1. ^{{cite journal |vauthors=Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y | title = Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase | journal = Biochem Biophys Res Commun | volume = 181 | issue = 2 | pages = 677–83 |date=Jan 1992 | pmid = 1755850 | pmc = | doi =10.1016/0006-291X(91)91244-7 |display-authors=etal}}
2. ^{{cite web | title = Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2588| accessdate = }}
3. ^{{cite web | title = Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2588| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Fukuda S, Tomatsu S, Masue M, etal |title=Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. |journal=J. Clin. Invest. |volume=90 |issue= 3 |pages= 1049–53 |year= 1992 |pmid= 1522213 |doi=10.1172/JCI115919 | pmc=329963 }}
  • {{cite journal |vauthors=Masue M, Sukegawa K, Orii T, Hashimoto T |title=N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics. |journal=J. Biochem. |volume=110 |issue= 6 |pages= 965–70 |year= 1992 |pmid= 1794986 |doi= }}
  • {{cite journal |vauthors=Bielicki J, Hopwood JJ |title=Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization. |journal=Biochem. J. |volume=279 |issue= 2|pages= 515–20 |year= 1991 |pmid= 1953646 |doi= | pmc=1151634 }}
  • {{cite journal |vauthors=Matalon R, Arbogast B, Justice P, etal |title=Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. |journal=Biochem. Biophys. Res. Commun. |volume=61 |issue= 2 |pages= 759–65 |year= 1975 |pmid= 4218100 |doi=10.1016/0006-291X(74)91022-5 }}
  • {{cite journal |vauthors=Fujimoto A, Horwitz AL |title=Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. |journal=Am. J. Med. Genet. |volume=15 |issue= 2 |pages= 265–73 |year= 1983 |pmid= 6224421 |doi= 10.1002/ajmg.1320150210 }}
  • {{cite journal |vauthors=Bielicki J, Fuller M, Guo XH, etal |title=Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase. |journal=Biochem. J. |volume=311 |issue= 1|pages= 333–9 |year= 1995 |pmid= 7575473 |doi= | pmc=1136156 }}
  • {{cite journal |vauthors=Tomatsu S, Fukuda S, Cooper A, etal |title=Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). |journal=Hum. Mutat. |volume=6 |issue= 2 |pages= 195–6 |year= 1995 |pmid= 7581409 |doi= 10.1002/humu.1380060218 }}
  • {{cite journal |vauthors=Tomatsu S, Fukuda S, Cooper A, etal |title=Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients. |journal=Hum. Mol. Genet. |volume=4 |issue= 4 |pages= 741–3 |year= 1995 |pmid= 7633425 |doi=10.1093/hmg/4.4.741 }}
  • {{cite journal |vauthors=Tomatsu S, Fukuda S, Cooper A, etal |title=Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. |journal=Am. J. Hum. Genet. |volume=57 |issue= 3 |pages= 556–63 |year= 1995 |pmid= 7668283 |doi= | pmc=1801282 }}
  • {{cite journal |vauthors=Ogawa T, Tomatsu S, Fukuda S, etal |title=Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. |journal=Hum. Mol. Genet. |volume=4 |issue= 3 |pages= 341–9 |year= 1995 |pmid= 7795586 |doi=10.1093/hmg/4.3.341 }}
  • {{cite journal |vauthors=Morris CP, Guo XH, Apostolou S, etal |title=Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. |journal=Genomics |volume=22 |issue= 3 |pages= 652–4 |year= 1995 |pmid= 8001980 |doi= 10.1006/geno.1994.1443 }}
  • {{cite journal |vauthors=Nakashima Y, Tomatsu S, Hori T, etal |title=Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region. |journal=Genomics |volume=20 |issue= 1 |pages= 99–104 |year= 1994 |pmid= 8020961 |doi= 10.1006/geno.1994.1132 }}
  • {{cite journal |vauthors=Masuno M, Tomatsu S, Nakashima Y, etal |title=Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. |journal=Genomics |volume=16 |issue= 3 |pages= 777–8 |year= 1993 |pmid= 8325655 |doi= 10.1006/geno.1993.1266 }}
  • {{cite journal |vauthors=Baker E, Guo XH, Orsborn AM, etal |title=The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. |journal=Am. J. Hum. Genet. |volume=52 |issue= 1 |pages= 96–8 |year= 1993 |pmid= 8434612 |doi= | pmc=1682100 }}
  • {{cite journal |vauthors=Tomatsu S, Fukuda S, Yamagishi A, etal |title=Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. |journal=Am. J. Hum. Genet. |volume=58 |issue= 5 |pages= 950–62 |year= 1996 |pmid= 8651279 |doi= | pmc=1914620 }}
  • {{cite journal |vauthors=Cole DE, Fukuda S, Gordon BA, etal |title=Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA). |journal=Am. J. Med. Genet. |volume=63 |issue= 4 |pages= 558–65 |year= 1997 |pmid= 8826435 |doi= 10.1002/(SICI)1096-8628(19960628)63:4<558::AID-AJMG9>3.0.CO;2-K }}
  • {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
  • {{cite journal |vauthors=Pshezhetsky AV, Potier M |title=Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. |journal=J. Biol. Chem. |volume=271 |issue= 45 |pages= 28359–65 |year= 1996 |pmid= 8910459 |doi=10.1074/jbc.271.45.28359 }}
  • {{cite journal |vauthors=Bunge S, Kleijer WJ, Tylki-Szymanska A, etal |title=Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. |journal=Hum. Mutat. |volume=10 |issue= 3 |pages= 223–32 |year= 1997 |pmid= 9298823 |doi= 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J }}
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External links

  • {{MeshName|GALNS+protein,+human}}
{{NLM content}}{{Esterases}}{{Glycosaminoglycan metabolism enzymes}}{{hydrolase-stub}}
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