protein

Recombinant Human N-acetylgalactosamine-6-sulfatase

MBS958562

0.05 mg (E-Coli)

180 USD

Recombinant Protein

Recombinant Human N-acetylgalactosamine-6-sulfatase

N-acetylgalactosamine-6-sulfatase

Chondroitinsulfatase; Chondroitinase; Galactose-6-sulfate sulfatase; GalN6S; N-acetylgalactosamine-6-sulfate sulfatase; GalNAc6S sulfatase

N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfatase; galactosamine (N-acetyl)-6-sulfatase; Chondroitinsulfatase; Chondroitinase; Galactose-6-sulfate sulfatase; GalN6S; N-acetylgalactosamine-6-sulfate sulfatase; GalNAc6S sulfatase

GALNS

GALNS; GALNS; GAS; MPS4A; GalN6S; GALNAC6S; Chondroitinase; GalN6S; GalNAc6S sulfatase

GALNS_HUMAN

E Coli or Yeast or Baculovirus or Mammalian Cell

27-522; Mature full length protein

522

APQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAE
GLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHA
RNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHL
GHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYR
DWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQA
RHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVRE
IDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQ
GGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQ
LGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRL
MDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGI
DFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLS
FASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVM
NWAPPGCEKLGKCLTPPESIPKKCLWSH

Greater than 90% as determined by SDS-PAGE.

Liquid containing glycerol; lyophilization may be available upon request.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

Signal Transduction

Morquio disease isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.Tomatsu S., Fukuda S., Masue M., Sukegawa K., Fukao T., Yamagishi A., Hori T., Iwata H., Ogawa T., Nakashima Y., Hanyu Y., Hashimoto T., Titani K., Oyama R., Suzuki M., Yagi K., Hayashi Y., Orii T.Biochem. Biophys. Res. Commun. 181:677-683(1991) Morquio A syndrome cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.Morris C.P., Guo X.H., Apostolou S., Hopwood J.J., Scott H.S.Genomics 22:652-654(1994) Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.J. Proteome Res. 8:651-661(2009) The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.Rivera-Colon Y., Schutsky E.K., Kita A.Z., Garman S.C.J. Mol. Biol. 423:736-751(2012) Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.Fukuda S., Tomatsu S., Masue M., Sukegawa K., Iwata H., Ogawa T., Nakashima Y., Hori T., Yamagishi A., Hanyu Y., Morooka K., Kiman T., Hashimoto T., Orii T.J. Clin. Invest. 90:1049-1053(1992) Mucopolysaccharidosis IVA identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Maruf Rezvi G., Yamagishi A., Yamada N., Kato Z., Isogai K., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T.Am. J. Hum. Genet. 57:556-563(1995) Mucopolysaccharidosis IVA screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.Ogawa T., Tomatsu S., Fukuda S., Yamagishi A., Maruf Rezvi G., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T.Hum. Mol. Genet. 4:341-349(1995) Mucopolysaccharidosis type IVA identification of six novel mutations among non-Japanese patients.Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Maruf Rezvi G., Yamagishi A., Yamada N., Kato Z., Isogai K., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T.Hum. Mol. Genet. 4:741-743(1995) Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease) .Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Yamada N., Isogai K., Kato Z., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T.Hum. Mutat. 6:195-196(1995) Mucopolysaccharidosis IVA four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.Tomatsu S., Fukuda S., Yamagishi A., Cooper A., Wraith J.E., Hori T., Kato Z., Yamada N., Isogai K., Sukegawa K., Kondo N., Suzuki Y., Shimozawa N., Orii T.Am. J. Hum. Genet. 58:950-962(1996) Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA) .Cole D.E.C., Fukuda S., Gordon B.A., Rip J.W., Lecouteur A.N., Rupar C.A., Tomatsu S., Ogawa T., Sukegawa K., Orii T.3.3.CO;2-V>Am. J. Med. Genet. 63:558-565(1996) Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.Bunge S., Kleijer W.J., Tylki-Szymanska A., Steglich C., Beck M., Tomatsu S., Fukuda S., Poorthuis B.J.H.M., Czartoryska B., Orii T., Gal A.3.3.CO;2-M>Hum. Mutat. 10:223-232(1997) Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Ferreira P., di Natale P., Tortora P., Fujimoto A., Kato Z., Yamada N., Isogai K., Yamagishi A., Sukegawa K., Suzuki Y., Shimozawa N., Kondo N., Sly W.S., Orii T.3.0.CO;2-B>Hum. Mutat. 10:368-375(1997) Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland nine novel mutations including T312S, a common allele that confers a mild phenotype.Yamada N., Fukuda S., Tomatsu S., Muller V., Hopwood J.J., Nelson J., Kato Z., Yamagishi A., Sukegawa K., Kondo N., Orii T.3.0.CO;2-J>Hum. Mutat. 11:202-208(1998) Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene diagnostic implications in Morquio disease.Tomatsu S., Fukuda S., Cooper A., Wraith J.E., Yamagishi A., Kato Z., Yamada N., Isogai K., Sukegawa K., Suzuki Y., Shimozawa N., Kondo N., Orii T.Hum. Mutat. Suppl. 1:S42-S46(1998) Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) .Tomatsu S., Montano A.M., Nishioka T., Gutierrez M.A., Pena O.M., Tranda Firescu G.G., Lopez P., Yamaguchi S., Noguchi A., Orii T.Hum. Mutat. 26:500-512(2005) The consensus coding sequences of human breast and colorectal cancers.Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.Science 314:268-274(2006) Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Morrone A., Tylee K.L., Al-Sayed M., Brusius-Facchin A.C., Caciotti A., Church H.J., Coll M.J., Davidson K., Fietz M.J., Gort L., Hegde M., Kubaski F., Lacerda L., Laranjeira F., Leistner-Segal S., Mooney S., Pajares S., Pollard L., Ribeiro I., Wang R.Y., Miller N.Mol. Genet. Metab. 112:160-170(2014)

4503899

NP_000503.1

NM_000512.4

P34059

82.8kD

Chondroitin Sulfate Degradation Pathway (413376); Chondroitin Sulfate Degradation Pathway (468247); Glycosaminoglycan Degradation Pathway (82981); Glycosaminoglycan Degradation Pathway (355); Keratan Sulfate Degradation Pathway (413378); Keratan Sulfate Degradation Pathway (468269); Lysosome Pathway (99052); Lysosome Pathway (96865); Metabolic Pathways (132956)

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. [provided by RefSeq, Jul 2008]

GALNS: Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A); also known as Morquio A syndrome. MPS4A is a form of mucopolysaccharidosis type 4, 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. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Belongs to the sulfatase family. Protein type: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.1.6.4. Chromosomal Location of Human Ortholog: 16q24.3. Cellular Component: lysosomal lumen. Molecular Function: metal ion binding; N-acetylgalactosamine-4-sulfatase activity; N-acetylgalactosamine-6-sulfatase activity; sulfuric ester hydrolase activity. Biological Process: carbohydrate metabolic process; glycosaminoglycan metabolic process; keratan sulfate catabolic process; keratan sulfate metabolic process. Disease: Mucopolysaccharidosis, Type Iva

0.05 mg (E-Coli)

180 USD

0.05 mg (Yeast)

260

0.2 mg (E-Coli)

490

0.2 mg (Yeast)

600

0.5 mg (E-Coli)

715