Galactosamine-6 sulfatase
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.[2]
References
- ↑ Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y; et al. (Jan 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. doi:10.1016/0006-291X(91)91244-7. PMID 1755850.
- 1 2 "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. doi:10.1172/JCI115919. PMC 329963. PMID 1522213.
- 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 (2): 515–20. PMC 1151634. 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. doi:10.1016/0006-291X(74)91022-5. 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 (1): 333–9. PMC 1136156. 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. doi:10.1093/hmg/4.4.741. 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. PMC 1801282. 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. doi:10.1093/hmg/4.3.341. 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. PMC 1682100. 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. PMC 1914620. 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. doi:10.1101/gr.6.9.791. 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. doi:10.1074/jbc.271.45.28359. 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
- GALNS protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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