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Official Full Name: LARGE xylosyl- and glucuronyltransferase 1
Also known as: LARGE; MDC1D; MDDGA6; MDDGB6
This gene encodes a member of the n-acetylglucosamine transferase gene family. It encodes a glycosyltransferase involved in the glycosylation of α-triglycan glycans and the synthesis of glycoproteins and sphingolipid sugar chains. It may also be involved in the addition of repeating disaccharide units. The protein encoded by this gene is a glycotransferase that adds final xylose and glucuronic acid to betatriuronic acid, thereby allowing betatriuronic acid to bind ligands, including laminin 211 and neurotoxin . Mutations in this gene cause multiple forms of congenital muscular dystrophy characterized by cognitive impairment and abnormal glycosylation of alpha-dystrophy. Alternative splicing of this gene results in multiple transcript variants encoding the same protein.
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