Species Human Entrez 9215 | Human Mouse Ensembl ENSG00000133424 | |
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Aliases LARGE1, MDC1D, MDDGA6, MDDGB6, LARGE, like-glycosyltransferase, LARGE xylosyl- and glucuronyltransferase 1 External IDs MGI: 1342270 HomoloGene: 7810 GeneCards: LARGE1 | ||
Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.
Function
This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The exact function of LARGE, a golgi protein, remains uncertain. 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.
LARGE may also play a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells.