Galactosamine-6 sulfatase
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Galactosamine-6_sulfatase".

content
Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)
Identifiers
Symbols GALNS; GAS; GALNAC6S; MPS4A
External IDs OMIM: 253000 MGI: 1355303 HomoloGene: 55468
EC number 3.1.6.4
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2588 50917
Ensembl ENSG00000141012 ENSMUSG00000015027
Uniprot P34059 Q571E4
Refseq NM_000512 (mRNA)
NP_000503 (protein)		 NM_016722 (mRNA)
NP_057931 (protein)
Location Chr 16: 87.41 - 87.45 Mb Chr 8: 125.46 - 125.5 Mb
Pubmed search [1] [2]

Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA), also known as GALNS, is a human gene.[1]

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.[1]

References

  1. ^ a b "Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)".

Further reading

  • Fukuda S, Tomatsu S, Masue M, et al. (1992). "Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.". J. Clin. Invest. 90 (3): 1049–53. PMID 1522213. 
  • Tomatsu S, Fukuda S, Masue M, et al. (1992). "Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.". Biochem. Biophys. Res. Commun. 181 (2): 677–83. PMID 1755850. 
  • Masue M, Sukegawa K, Orii T, Hashimoto T (1992). "N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics.". J. Biochem. 110 (6): 965–70. PMID 1794986. 
  • Bielicki J, Hopwood JJ (1991). "Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization.". Biochem. J. 279 ( Pt 2): 515–20. PMID 1953646. 
  • Matalon R, Arbogast B, Justice P, et al. (1975). "Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase.". Biochem. Biophys. Res. Commun. 61 (2): 759–65. PMID 4218100. 
  • Fujimoto A, Horwitz AL (1983). "Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.". Am. J. Med. Genet. 15 (2): 265–73. doi:10.1002/ajmg.1320150210. PMID 6224421. 
  • Bielicki J, Fuller M, Guo XH, et al. (1995). "Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase.". Biochem. J. 311 ( Pt 1): 333–9. PMID 7575473. 
  • Tomatsu S, Fukuda S, Cooper A, et al. (1995). "Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).". Hum. Mutat. 6 (2): 195–6. doi:10.1002/humu.1380060218. PMID 7581409. 
  • Tomatsu S, Fukuda S, Cooper A, et al. (1995). "Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.". Hum. Mol. Genet. 4 (4): 741–3. PMID 7633425. 
  • Tomatsu S, Fukuda S, Cooper A, et al. (1995). "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.". Am. J. Hum. Genet. 57 (3): 556–63. PMID 7668283. 
  • Ogawa T, Tomatsu S, Fukuda S, et al. (1995). "Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.". Hum. Mol. Genet. 4 (3): 341–9. PMID 7795586. 
  • Morris CP, Guo XH, Apostolou S, et al. (1995). "Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.". Genomics 22 (3): 652–4. doi:10.1006/geno.1994.1443. PMID 8001980. 
  • Nakashima Y, Tomatsu S, Hori T, et al. (1994). "Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.". Genomics 20 (1): 99–104. doi:10.1006/geno.1994.1132. PMID 8020961. 
  • Masuno M, Tomatsu S, Nakashima Y, et al. (1993). "Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.". Genomics 16 (3): 777–8. doi:10.1006/geno.1993.1266. PMID 8325655. 
  • Baker E, Guo XH, Orsborn AM, et al. (1993). "The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.". Am. J. Hum. Genet. 52 (1): 96–8. PMID 8434612. 
  • Tomatsu S, Fukuda S, Yamagishi A, et al. (1996). "Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.". Am. J. Hum. Genet. 58 (5): 950–62. PMID 8651279. 
  • Cole DE, Fukuda S, Gordon BA, et al. (1997). "Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).". Am. J. Med. Genet. 63 (4): 558–65. doi:10.1002/(SICI)1096-8628(19960628)63:4<558::AID-AJMG9>3.0.CO;2-K. PMID 8826435. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548. 
  • Pshezhetsky AV, Potier M (1996). "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.". J. Biol. Chem. 271 (45): 28359–65. PMID 8910459. 
  • Bunge S, Kleijer WJ, Tylki-Szymanska A, et al. (1997). "Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.". Hum. Mutat. 10 (3): 223–32. doi:10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J. PMID 9298823. 

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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Hydrolase: esterases (EC 3.1)
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3.1.3: Phosphatase
3.1.4: Phosphodiesterase
3.1.6: Sulfatase
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