Beta-1,4-galactosyltransferase 1, also known as B4GALT1, GGTB2 and beta4GalT1, is a single-pass type I I membrane protein. B4GALT1 is a member of the glycosyltransferase 7 family. It is ubiquitously expressed but at very low levels in fetal and adult brain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. B4GALT1 is an enzyme that functions in the synthesis of glycoconjugates It has two flexible loops, one short and one long. Upon binding a metal ion and UDP-galactose, the loops change from an open to a closed conformation, repositioning residues to lock the ligands in place. B4GALT1 is one of the best-studied glycosyltransferases. It plays a key role in the synthesis of selectin ligands. B4GALT1 may play an important role in the inflammation reaction. Defects in B4GALT1 are the cause of congenital disorder of glycosylation type 2D (CDG2D). CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation.
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