| ncRNA Symbol: | LARGE1 |
| Full Name: | LARGE xylosyl- and glucuronyltransferase 1 |
| Category: | mRNA |
| Synonyms: | LARGE|MDC1D|MDDGA6|MDDGB6 |
| Chromosome: | chr22 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 33162226 | End Site(bp): | 33922841 | |
| Gene 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] |
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