LARGE Products

Description

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]

Bioinformatics

Entrez	16795 Mouse 418062 Chicken 9215 Human
Uniprot	NP_004728 Human NP_004728.1 Human NP_598397 Human O95461 Human
Product By Gene ID	9215
Alternate Names	Acetylglucosaminyltransferase-like 1A acetylglucosaminyltransferase-like protein glycosyltransferase-like protein LARGE1 LARGE1 like-acetylglucosaminyltransferase like-glycosyltransferase MDC1D MDDGA6 MDDGB6 xylosyl- and glucuronyltransferase LARGE1