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This 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.
Gene Name: | like-glycosyltransferase |
Synonyms: | LARGE, KIAA0609, LARGE1, Like-glycosyltransferase, MDDGA6, MDC1D, MDDGB6 |
Target Sequences: | NM_004737 NP_004728.1 O95461 |
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