LARGE xylosyl- and glucuronyltransferase 1 (LARGE1)

LARGE xylosyl- and glucuronyltransferase 1 (LARGE1) is a bifunctional glycosyltransferase enzyme localized in the Golgi apparatus, primarily responsible for synthesizing matriglycan polymers by adding alternating xylose and glucuronic acid sugars to specific proteins, most notably α-dystroglycan. These modifications are essential for proper structural and signaling functions at the interface between the extracellular matrix and the cytoskeleton, especially in skeletal muscle and neural tissue. Mutations or loss of function in LARGE1 disrupt α-dystroglycan glycosylation, weakening the connection between the cell and its extracellular environment and resulting in a spectrum of congenital muscular dystrophies and neurodevelopmental disorders. The enzyme has been implicated in tumor progression and is a potential, albeit not yet pharmaceutically targeted, therapeutic enzyme for conditions related to dystroglycan hypoglycosylation.

Other names

LARGE glycosyltransferase 1Glycosyltransferase-like protein LARGE1Acetylglucosaminyltransferase-like 1AAlpha-1,3-xylosyltransferase LARGE1Beta-1,3-glucuronyltransferase LARGE1KIAA0609Glycosyltransferase-like proteinMDC1DMDDGA6MDDGB6xylosyl- and glucuronyltransferase LARGE1acetylglucosaminyltransferase-like proteinglycosyltransferase-like protein LARGE1