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GCS1 Antibody (N-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q13724 |
|---|---|
| Other Accession | NP_006293 |
| Clone Names | 3103127 |
| Gene ID | 7841 |
|---|---|
| Other Names | Mannosyl-oligosaccharide glucosidase, Processing A-glucosidase I, MOGS, GCS1 |
| Target/Specificity | The synthetic peptide sequence used to generate the antibody AP2315a was selected from the N-term region of human GCS1 . A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay. |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | MOGS (HGNC:24862) |
|---|---|
| Function | In the context of N-glycan degradation, cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner. |
| Cellular Location | Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000250|UniProtKB:O88941} |
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Provided below are standard protocols that you may find useful for product applications.
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.
References
Volker, C., et al., Glycobiology 12(8):473-483 (2002).De Praeter, C.M., et al., Am. J. Hum. Genet. 66(6):1744-1756 (2000).Kalz-Fuller, B., et al., Eur. J. Biochem. 231(2):344-351 (1995).Kalz-Fueller, B., et al., Eur. J. Biochem. 249, 912-912 (1997).
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