N-Acetylgalactosamine-6-Sulfatase (GALNS)

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CS; GAS; MPS4A; GALNAC6S; Chondroitin Sulfatase; Chondroitinase; Galactosamine(N-Acetyl)-6-Sulfate Sulfatase; Morquio Syndrome; Mucopolysaccharidosis Type IVA

N-Acetylgalactosamine-6-Sulfatase (GALNS)

N-acetylgalactosamine-6-sulfatase is an enzyme that 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. Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant N-Acetylgalactosamine-6-Sulfatase (GALNS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GALNS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GALNS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GALNS) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GALNS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA254Mu01 Recombinant N-Acetylgalactosamine-6-Sulfatase (GALNS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA254Mu01 Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GALNS) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GALNS) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GALNS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA254Ra01 Recombinant N-Acetylgalactosamine-6-Sulfatase (GALNS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA254Ra01 Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GALNS) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GALNS) CLIA Kit Customized Service Offer
n/a ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GALNS) ELISA Kit Customized Service Offer
  1. "Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase."Biochem. Biophys. Res. Commun. 181:677-683(1991) [PubMed] [Europe PMC] [Abstract]
  2. "Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene."Genomics 22:652-654(1994) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  5. "The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A."J. Mol. Biol. 423:736-751(2012) [PubMed] [Europe PMC] [Abstract]
  6. "Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases."J. Clin. Invest. 90:1049-1053(1992) [PubMed] [Europe PMC] [Abstract]
  7. "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene."Am. J. Hum. Genet. 57:556-563(1995) [PubMed] [Europe PMC] [Abstract]
  8. "Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene."Hum. Mol. Genet. 4:341-349(1995) [PubMed] [Europe PMC] [Abstract]
  9. "Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients."Hum. Mol. Genet. 4:741-743(1995) [PubMed] [Europe PMC] [Abstract]
  10. "Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)."Hum. Mutat. 6:195-196(1995) [PubMed] [Europe PMC] [Abstract]
  11. "Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency."Am. J. Hum. Genet. 58:950-962(1996) [PubMed] [Europe PMC] [Abstract]
  12. "Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)."Am. J. Med. Genet. 63:558-565(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome."Hum. Mutat. 10:223-232(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene."Hum. Mutat. 10:368-375(1997) [PubMed] [Europe PMC] [Abstract]
  15. "Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype."Hum. Mutat. 11:202-208(1998) [PubMed] [Europe PMC] [Abstract]
  16. "Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease."Hum. Mutat. Suppl. 1:S42-S46(1998) [PubMed] [Europe PMC] [Abstract]
  17. "Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)."Hum. Mutat. 26:500-512(2005) [PubMed] [Europe PMC] [Abstract]
  18. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  19. "Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations." Mol. Genet. Metab. 112:160-170(2014) [PubMed] [Europe PMC] [Abstract]