Full name: LARGE xylosyl- and glucuronyltransferase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: LARGE; MDC1D; MDDGA6; MDDGB6

Summary: 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]

Expression: Ubiquitous expression in brain (RPKM 9.1), heart (RPKM 8.9) and 23 other tissues

Gene size: 856162bp

Exon count: 29