Aliases for LARGE1 Gene
External Ids for LARGE1 Gene
Previous HGNC Symbols for LARGE1 Gene
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 cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
GeneCards Summary for LARGE1 Gene
LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with LARGE1 include Muscular Dystrophy-Dystroglycanopathy , Type A, 6 and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. An important paralog of this gene is LARGE2.
UniProtKB/Swiss-Prot for LARGE1 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) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699).