This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG)| which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain| possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants.
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Număr Catalog 772-BT-AP04715-20ulCategorieAfaceri și industrie > Știință și laboratorFurnizorJiaxing Korain Biotech Ltd (BT Labs)GentaurDimensiune20ulTipsingle