Mannosyl-Oligosaccharide Glucosidase (GCS1) Antibody

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.

Purified through a protein G column, eluted with high and low pH buffers and neutralized immediately, followed by dialysis against PBS.

Q13724

PBS containing 0.09% sodium azide.

This product is for research use only.