B3GAT3
Reactivity: Human
WB, ELISA
Host: Rabbit
Polyclonal
APC
Application Notes
Optimal working dilution should be determined by the investigator.
Restrictions
For Research Use only
Buffer
In 1x PBS, pH 7.4
Handling Advice
Aliquot to avoid repeated freezing and thawing.
Storage
-20 °C
Storage Comment
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
Job, Mizumoto, Smith, Couser, Brazil, Saal, Patterson, Gibson, Soden, Miller, Thiffault, Saunders, Yamada, Hoffmann, Sugahara, Farrow: "Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype." in: BMC medical genetics, Vol. 17, Issue 1, pp. 86, (2016) (PubMed).
Budde, Mizumoto, Kogawa, Becker, Altmüller, Thiele, Rüschendorf, Toliat, Kaleschke, Hämmerle, Höhne, Sugahara, Nürnberg, Kennerknecht: "Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3." in: Human genetics, Vol. 134, Issue 7, pp. 691-704, (2015) (PubMed).
Baasanjav, Al-Gazali, Hashiguchi, Mizumoto, Fischer, Horn, Seelow, Ali, Aziz, Langer, Saleh, Becker, Nürnberg, Cantagrel, Gleeson, Gomez, Michel, Stricker, Lindner, Nürnberg, Sugahara, Mundlos et al.: "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. ..." in: American journal of human genetics, Vol. 89, Issue 1, pp. 15-27, (2011) (PubMed).
Hiyama, Gajghate, Sakai, Mochida, Shapiro, Risbud: "Activation of TonEBP by calcium controls {beta}1,3-glucuronosyltransferase-I expression, a key regulator of glycosaminoglycan synthesis in cells of the intervertebral disc." in: The Journal of biological chemistry, Vol. 284, Issue 15, pp. 9824-34, (2009) (PubMed).