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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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
Gene Aliases: BPFD#36; enr; fg; froggy; Gyltl1a; KIAA0609; LARGE; LARGE1; Mbp-1; Mbp1; MDC1D; MDDGA6; MDDGB6; mKIAA0609; myd