N-Acetylgalactosamine-6-Sulfatase (GALNS) Human Recombinant Protein

MBS958562 is a recombinant protein targeting GALNS. Also known as Recombinant Human N-acetylgalactosamine-6-sulfatase. Host: E Coli or Yeast or Baculovirus or Mammalian Cell.

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)

Small volumes of GALNS recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.