Galactosamine-6 sulfatase

GALNS
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4FDJ, 4FDI
Identifiers
Aliases	GALNS, galactosamine (N-acetyl)-6-sulfatase, GALNAC6S, GAS, GalN6S, MPS4A
External IDs	OMIM: 612222; MGI: 1355303; HomoloGene: 55468; GeneCards: GALNS; OMA:GALNS - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q24.3 Start 88,813,734 bp End 88,856,970 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 E1 Start 123,304,981 bp End 123,338,202 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube sperm right testis left testis stromal cell of endometrium Pituitary Gland anterior pituitary bronchial epithelial cell olfactory zone of nasal mucosa right adrenal gland Top expressed in right kidney granulocyte proximal tubule decidua human kidney epithelium of small intestine gastrula ileum stroma of bone marrow molar More reference expression data BioGPS More reference expression data
Gene ontology Molecular function N-acetylgalactosamine-4-sulfatase activity N-acetylgalactosamine-6-sulfatase activity sulfuric ester hydrolase activity catalytic activity hydrolase activity metal ion binding arylsulfatase activity Cellular component lysosome lysosomal lumen extracellular exosome extracellular region azurophil granule lumen Biological process metabolism keratan sulfate catabolic process neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2588 50917 Ensembl ENSG00000141012 ENSMUSG00000015027 UniProt P34059 Q571E4 RefSeq (mRNA) NM_000512 NM_001323543 NM_001323544 NM_001193645 NM_016722 RefSeq (protein) NP_000503 NP_001310472 NP_001310473 NP_001180574 NP_057931 Location (UCSC) Chr 16: 88.81 – 88.86 Mb Chr 8: 123.3 – 123.34 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.

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.

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. doi:10.1093/oxfordjournals.jbchem.a123697. PMID 1794986.
• Bielicki J, Hopwood JJ (1991). "Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization". Biochem. J. 279 (2): 515–20. doi:10.1042/bj2790515. 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. doi:10.1042/bj3110333. 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. S2CID 6306459.
• 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. S2CID 25035023.

External links

• GALNS+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• PDBe-KB provides an overview of all the structure information available in the PDB for Human N-acetylgalactosamine-6-sulfatase

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