Search results for abx031580

Mannosyl-Oligosaccharide Glucosidase (GCS1) Antibody, Abbexa, abx031580

GCS1 cleaves the distal alpha 1, 2-linked glucose residue from the Glc (3) Man (9) GlcNAc (2) oligosaccharide precursor in a highly specific manner. Defects in GCS1 are the cause of type IIb congenital disorder of glycosylation (CDGIIb). This syndrome is also known as glucosidase I deficiency and is characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms include hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course is progressive and survival is at most a few months.