Galactosamine-6 sulfatase explained
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]
Further reading
- Fukuda S, Tomatsu S, Masue M, etal . Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. . J. Clin. Invest. . 90 . 3 . 1049–53 . 1992 . 1522213 . 10.1172/JCI115919 . 329963 .
- Masue M, Sukegawa K, Orii T, Hashimoto T . N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics. . J. Biochem. . 110 . 6 . 965–70 . 1992 . 1794986 . 10.1093/oxfordjournals.jbchem.a123697.
- Bielicki J, Hopwood JJ . Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization. . Biochem. J. . 279 . 2. 515–20 . 1991 . 1953646 . 10.1042/bj2790515. 1151634 .
- Matalon R, Arbogast B, Justice P, etal . Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. . Biochem. Biophys. Res. Commun. . 61 . 2 . 759–65 . 1975 . 4218100 . 10.1016/0006-291X(74)91022-5 .
- Fujimoto A, Horwitz AL . Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome. . Am. J. Med. Genet. . 15 . 2 . 265–73 . 1983 . 6224421 . 10.1002/ajmg.1320150210 .
- Bielicki J, Fuller M, Guo XH, etal . Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase. . Biochem. J. . 311 . 1. 333–9 . 1995 . 7575473 . 10.1042/bj3110333. 1136156 .
- Tomatsu S, Fukuda S, Cooper A, etal . Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). . Hum. Mutat. . 6 . 2 . 195–6 . 1995 . 7581409 . 10.1002/humu.1380060218 . 6306459 . free .
- Tomatsu S, Fukuda S, Cooper A, etal . Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients. . Hum. Mol. Genet. . 4 . 4 . 741–3 . 1995 . 7633425 . 10.1093/hmg/4.4.741 .
- Tomatsu S, Fukuda S, Cooper A, etal . 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 . 1995 . 7668283 . 1801282 .
- Ogawa T, Tomatsu S, Fukuda S, etal . Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. . Hum. Mol. Genet. . 4 . 3 . 341–9 . 1995 . 7795586 . 10.1093/hmg/4.3.341 .
- Morris CP, Guo XH, Apostolou S, etal . Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. . Genomics . 22 . 3 . 652–4 . 1995 . 8001980 . 10.1006/geno.1994.1443 .
- Nakashima Y, Tomatsu S, Hori T, etal . 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 . 1994 . 8020961 . 10.1006/geno.1994.1132 .
- Masuno M, Tomatsu S, Nakashima Y, etal . Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. . Genomics . 16 . 3 . 777–8 . 1993 . 8325655 . 10.1006/geno.1993.1266 .
- Baker E, Guo XH, Orsborn AM, etal . The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. . Am. J. Hum. Genet. . 52 . 1 . 96–8 . 1993 . 8434612 . 1682100 .
- Tomatsu S, Fukuda S, Yamagishi A, etal . Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. . Am. J. Hum. Genet. . 58 . 5 . 950–62 . 1996 . 8651279 . 1914620 .
- Cole DE, Fukuda S, Gordon BA, etal . 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 . 1997 . 8826435 . 10.1002/(SICI)1096-8628(19960628)63:4<558::AID-AJMG9>3.0.CO;2-K .
- Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
- Pshezhetsky AV, Potier M . 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 . 1996 . 8910459 . 10.1074/jbc.271.45.28359 . free .
- Bunge S, Kleijer WJ, Tylki-Szymanska A, etal . 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 . 1997 . 9298823 . 10.1002/(SICI)1098-1004(1997)10:3<223::AID-HUMU8>3.0.CO;2-J . 25035023 .
External links
- PDBe-KB provides an overview of all the structure information available in the PDB for Human N-acetylgalactosamine-6-sulfatase
Notes and References
- Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y . 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 . Jan 1992 . 1755850 . 10.1016/0006-291X(91)91244-7 . etal.
- Web site: Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA).
- Web site: Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA).