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Overview
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Background
LARGE1 serves as a glycosyltransferase which participates in glycosylation of the muscle membrane protein α-dystroglycan. Mutations of LARGE1 lead to hypoglycosylation of α-dystroglycan and cause congenital muscular dystrophy (MDC1D) associated with severe mental retardation. Altered α-dystroglycan glycosylation may also play a role in cancer, as hypoglycosylation of the protein and loss of laminin binding have been demonstrated in invasive carcinoma cells.
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- Properties
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Overview