N-Acetylgalactosamine-6-Sulfatase (GAS)
CS; GALNS; MPS4A; GALNAC6S; Chondroitin Sulfatase; Chondroitinase; Galactosamine(N-Acetyl)-6-Sulfate Sulfatase; Morquio Syndrome; Mucopolysaccharidosis Type IVA
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)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Hu01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Hu01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Hu01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Hu01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Hu01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Mu01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Mu01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Mu01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Mu01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Mu01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Ra01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Ra01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Ra01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Ra01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Ra01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Ca01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Ca01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Ca01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Ca01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Ca01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Po01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Po01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Po01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Po01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Po01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Bo01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Bo01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Bo01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Bo01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Bo01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Rb01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Rb01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Rb01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Rb01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Rb01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPW502Mo01 | Recombinant N-Acetylgalactosamine-6-Sulfatase (GAS) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAW502Mo01 | Monoclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IP. |
| PAW502Mo01 | Polyclonal Antibody to N-Acetylgalactosamine-6-Sulfatase (GAS) | WB; IHC; ICC; IF. | |
| Assay Kits | CLW502Mo01 | CLIA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | CLIA assay for Antigen Detection |
| ELW502Mo01 | ELISA Kit for N-Acetylgalactosamine-6-Sulfatase (GAS) | Enzyme-linked immunosorbent assay for Antigen Detection |
Reference
"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]
"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]
"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]
"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]
"The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A."
J. Mol. Biol. 423:736-751(2012) [PubMed] [Europe PMC] [Abstract]
"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]
"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]
"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]
"Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients."
Hum. Mol. Genet. 4:741-743(1995) [PubMed] [Europe PMC] [Abstract]
"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]
"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]
"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]
"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]
"Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene."
Hum. Mutat. 10:368-375(1997) [PubMed] [Europe PMC] [Abstract]
"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]
"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]
"Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)."
Hum. Mutat. 26:500-512(2005) [PubMed] [Europe PMC] [Abstract]
"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
"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]