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Details on Person Glycosyltransferase-like protein LARGE (MIM:603590) is a bif...
| Class:Id | Summation:6785674 |
|---|---|
| _displayName | Glycosyltransferase-like protein LARGE (MIM:603590) is a bif... |
| _timestamp | 2016-01-05 14:34:53 |
| created | [InstanceEdit:6785673] Jassal, Bijay, 2015-06-30 |
| modified | [InstanceEdit:8849757] Jassal, Bijay, 2015-12-17 [InstanceEdit:8851015] Jassal, Bijay, 2016-01-05 |
| text | Glycosyltransferase-like protein LARGE (MIM:603590) is a bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of a phosphorylated O-mannosyl trisaccharide, a structure present in alpha-dystroglycan (DAG1; MIM:128239) which plays a key role in skeletal muscle function and regeneration. LARGE contains two substrate-specific GT-domains and belongs to the CAZy glycosyltransferase families GT8 and GT49. Defects in LARGE result in hypoglycosylation of DAG1 and cause several congenital muscular dystrophies (CMDs). Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6; MIM:613154) is associated with brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life (Clement et al. 2008, Mercuri et al. 2009). Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6; MIM:608840) is associated with profound mental retardation, white matter changes and structural brain abnormalities (Longman et al. 2003). Several mutations are known (MIM:603590) and include W495R and S331F (Clement et al. 2008, Mercuri et al. 2009). |
| (summation) | [FailedReaction:6785668] Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA [Homo sapiens] |
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No pathways have been reviewed or authored by Glycosyltransferase-like protein LARGE (MIM:603590) is a bif... (6785674)
