LARGE1, Official Symbol LARGE1provided by HGNC Official Full Name LARGE xylosyl- and glucuronyltransferase 1provided by HGNC Primary source HGNC:HGNC:6511 See related Ensembl:ENSG00000133424 MIM:603590; AllianceGenome:HGNC:6511 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all