LARGE xylosyl- and glucuronyltransferase 1

KIAA0609

like-glycosyltransferase

like-acetylglucosaminyltransferase

Xylosyl- and glucuronyltransferase LARGE1

Acetylglucosaminyltransferase-like 1A

Glycosyltransferase-like protein

Alpha-1,3-xylosyltransferase LARGE1

Beta-1,3-glucuronyltransferase LARGE1

This gene 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. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018].

Varaico: Literature-Extracted Genetic Variants

LARGE1

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbol