| Entrez Gene ID |
9215 (NCBI Gene) |
| Official Gene Symbol |
LARGE (GeneCards) |
| Number of variants in LARGE1 in this database |
33 (view all the variants) |
| Full name |
LARGE xylosyl- and glucuronyltransferase 1 |
| Band |
22q12.3 |
| Other IDs |
Vega:
OTTHUMG00000150914
OMIM:
603590
HGNC:
HGNC:6511
Ensembl:
ENSG00000133424
|
| Other names |
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] |