ANTI-GCS1 (C-TERM)

Not available outside of the UK & Ireland.

General description

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.

Immunogen

GCS1 (GCS1_HUMAN, 801-836)This antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide selected form the C-terminal region of human GCS1.

Physical form

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide.