From Wikipedia
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). [Expression error: Missing operand for > "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.
- ↑ 2.0 2.1 "Entrez Gene: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2588.
Further reading
- Fukuda S, Tomatsu S, Masue M, et al. (1992). [Expression error: Missing operand for > "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. PMID 1522213.
- Masue M, Sukegawa K, Orii T, Hashimoto T (1992). [Expression error: Missing operand for > "N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics."]. J. Biochem. 110 (6): 965–70. PMID 1794986.
- Bielicki J, Hopwood JJ (1991). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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 error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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). [Expression error: Missing operand for > "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.
Hydrolase: esterases (EC 3.1) |
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3.1.1: Carboxylic ester hydrolases | Cholinesterase (Acetylcholinesterase, Butyrylcholinesterase) · Pectinesterase · 6-phosphogluconolactonase · PAF acetylhydrolase Lipase (Bile salt dependent, Gastric/Lingual, Pancreatic, Lysosomal, Hormone-sensitive, Endothelial, Hepatic, Lipoprotein, Monoacylglycerol, Diacylglycerol) Phospholipase ( A1, A2, B) | |
3.1.2: Thioesterase | | |
3.1.3: Phosphatase | | |
3.1.4: Phosphodiesterase | | |
3.1.6: Sulfatase | | |
Nuclease (includes deoxyribonuclease and ribonuclease) | |
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