Description
Human B3GAT3 Protein
| Catalog number: | B2011825 |
| Lot number: | Batch Dependent |
| Expiration Date: | Batch dependent |
| Amount: | 100 g |
| Molecular Weight or Concentration: | 36.4 kDa |
| Supplied as: | Solution |
| Applications: | molecular tool for various biochemical applications |
| Storage: | -20 C |
| Keywords: | B3GAT3, B3GAT 3, B3GAT-3, B3GAT3, B3GAT 3 protein, B3GAT-3 protein, Beta-1 3-glucuronyltransferase 3 protein, GLCATI protein |
| Grade: | Biotechnology grade. All products are highly pure. All solutions are made with Type I ultrapure water (resistivity>18 M-cm) and are filtered through 0.22 um. |
References
- Byrne AB, Mizumoto S, Arts P, Yap P, Feng J, Schreiber AW, Babic M, King-Smith SL, Barnett CP, Moore L, Sugahara K, Mutlu-Albayrak H, Nishimura G, Liebelt JE, Yamada S, Savarirayan R, Scott HS. Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis J Med Genet. 2020 Jul;57(7):454-460.
- Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjrup H, Mller-Madsen B, Nielsen T, Farholt S, Gregersen PA. B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient Eur J Med Genet. 2021 Dec;64(12):104342.
- Colman M, Van Damme T, Steichen-Gersdorf E, Laccone F, Nampoothiri S, Syx D, Guillemyn B, Symoens S, Malfait F. The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review Orphanet J Rare Dis. 2019 Jun 13;14(1):138.
- Zhang YL, Ding C, Sun L. High Expression B3GAT3 Is Related with Poor Prognosis of Liver Cancer Open Med (Wars). 2019 Feb 26;14:251-258.
- Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes Genes (Basel). 2019 Aug 21;10(9):631.
- Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Rivire JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation Genet Med. 2018 Feb;20(2):269-274.
- Job F, Mizumoto S, Smith L, Couser N, Brazil A, Saal H, Patterson M, Gibson MI, Soden S, Miller N, Thiffault I, Saunders C, Yamada S, Hoffmann K, Sugahara K, Farrow E. Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype BMC Med Genet. 2016 Nov 21;17(1):86.
- Gao H, Lin Y, He J, Zhou S, Liang M, Huang C, Li X, Liu C, Zhang P. Role of heparan sulfate in the Zika virus entry, replication, and cell death Virology. 2019 Mar;529:91-100.
- Budde BS, Mizumoto S, Kogawa R, Becker C, Altmller J, Thiele H, Rschendorf F, Toliat MR, Kaleschke G, Hmmerle JM, Hhne W, Sugahara K, Nrnberg P, Kennerknecht I. Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 Hum Genet. 2015 Jul;134(7):691-704.
