Galactosamine-6 sulfatase
From Wikipedia, the free encyclopedia
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Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)
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| Identifiers | ||||||||||||||
| Symbol(s) | GALNS; GAS; GALNAC6S; MPS4A | |||||||||||||
| External IDs | OMIM: 253000 MGI: 1355303 HomoloGene: 55468 | |||||||||||||
| EC number | 3.1.6.4 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| 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) |
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| 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]
[edit] References
[edit] 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:. 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:. 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:. 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:. 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:. 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:. 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:. PMID 9298823.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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