Beta-1,3-galactosyltransferase 6
Definition:
References:
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[1]. Masahiro Nakajima, et al. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet. 2013 Jun 6;92(6):927-34. [Content Brief]
[2]. A Ben-Mahmoud, et al. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. Clin Genet. 2018 Jun;93(6):1148-1158. [Content Brief]
[3]. X Bai, et al. Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6). J Biol Chem. 2001 Dec 21;276(51):48189-95. [Content Brief]
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