Galactosamine-6 sulfatase

Galactosamine (N-acetyl)-6-sulfate sulfatase
Identifiers
Symbols	GALNS; FLJ17434; FLJ42844; FLJ98217; GALNAC6S; GAS; MPS4A
External IDs	OMIM: 612222 MGI: 1355303 HomoloGene: 55468 GeneCards: GALNS Gene
EC number	3.1.6.4
Gene Ontology Molecular function • N-acetylgalactosamine-4-sulfatase activity • sulfuric ester hydrolase activity • hydrolase activity • N-acetylgalactosamine-6-sulfatase activity • metal ion binding Cellular component • lysosome Biological process • metabolic process • glycosaminoglycan metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2588	50917
Ensembl	ENSG00000141012	ENSMUSG00000015027
UniProt	P34059	Q571E4
RefSeq (mRNA)	NM_000512.4	NM_016722
RefSeq (protein)	NP_000503.1	NP_057931
Location (UCSC)	Chr 16: 88.88 – 88.92 Mb	Chr 8: 125.1 – 125.14 Mb
PubMed search	[1]	[2]

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

1. ^ 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. 
2. ^ ^{a b} "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). "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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=329963. 
• 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. PMC 1151634. PMID 1953646. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1151634. 
• 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 ( Pt 1): 333–9. PMC 1136156. PMID 7575473. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1136156. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1801282. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1682100. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914620. 
• 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

• MeSH GALNS+protein,+human

This article incorporates text from the United States National Library of Medicine, which is in the public domain.Template:Iuiuyih78

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