LARGE (Y-14) Antibody: sc-33435

LARGE Background Information
Glycosyltransferase-like protein LARGE, also designated acetylglucosaminyl-transferase-like protein, belongs to the glycosyltransferase 8 family. This ubiquitously expressed protein is a type II membrane protein. Although it is widely expressed, highest levels of detection are in heart, brain and skeletal muscle. LARGE carries out the synthesis of glycosphingolipid and glycoprotein sugar chains and is part of the repeated disaccharide unit addition. It may also be important in the hyperglycosylation of å-dystroglycan. This interaction of LARGE with dystroglycan is crucial for the biosynthetic pathway to create functional dystroglycan. Loss of functional dystroglycan can result in muscle degeneration. The gene encoding for LARGE maps to chromosome 22q12.3, and defects in this gene can cause congenital muscular dystrophy, an autosomal recessive disorder. LARGE co-localizes with GM130, a Golgi marker.