The mouse monoclonal antibody LARGE-02 recognizes human LARGE1, a glycosyltransferase localizing mainly to the Golgi apparatus. Crossreactivity with LARGE2 was not determined.
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.
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Protein Aliases: Acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; Glycosyltransferase-like protein; LARGE xylosyl- and glucuronyltransferase 1; like-glycosyltransferase
Gene Aliases: KIAA0609; LARGE; LARGE1; MDC1D; MDDGA6; MDDGB6
UniProt ID: (Human) O95461
Entrez Gene ID: (Human) 9215