GCS1 polyclonal (C-term), anti-human, mouse

Background:
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.

Other Names:
Mannosyl-oligosaccharide glucosidase, Processing A-glucosidase I, MOGS, GCS1

Target/Specificity:
This GCS1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 796-826 amino acids from the C-terminal region of human GCS1.

Antigen Region:
796-826

Antigen Type: Synthetic Peptide

Gene Name: MOGS (HGNC:24862)
Gene ID: 7841
Primary Accession: Q13724
NCBI Accession: NP_001139630.1;NP_006293.2
Other Accession: NP_006293
Format: Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is prepared by Saturated Ammonium Sulfate (SAS) precipitation followed by dialysis against PBS.