Aliases for LARGE2 Gene
External Ids for LARGE2 Gene
Previous HGNC Symbols for LARGE2 Gene
GeneCards Summary for LARGE2 Gene
LARGE2 (LARGE Xylosyl- And Glucuronyltransferase 2) is a Protein Coding gene. Diseases associated with LARGE2 include Interstitial Myocarditis and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are Metabolism of proteins and Mannose type O-glycan biosynthesis. An important paralog of this gene is LARGE1.
UniProtKB/Swiss-Prot Summary for LARGE2 Gene
Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.