The LARGE gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein.
Acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; Beta-1,3-glucuronyltransferase LARGE; Glycosyltransferase-like protein; glycosyltransferase-like protein LARGE1; LARGE xylosyl- and glucuronyltransferase 1; like-acetylglucosaminyltransferase; like-glycosyltransferase; myodystrophy; Xylosyltransferase LARGE
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