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.
Applications:Suitable for use in ELISA and Western Blot.
Other applications not tested.
Recommended Dilution:ELISA: 1:1,000 Western Blot: 1:100-1:500Optimal dilutions to be determined by the researcher.
Storage and Stability:Store product at 4°C if to be used immediately within two weeks.
For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20°C.
Aliquots are stable at -20°C for 12 months after receipt.
Dilute required amount only prior to immediate use.
Further dilutions can be made in assay buffer.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Note: Applications are based on unconjugated antibody.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by Protein G affinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.
Specificity：Recognizes human GCS1.
Isotype：IgG
Calc Applications Abbrev：E WB
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide selected from the N-terminal region of human GCS1 (KLH).
