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GNE Antibody (N-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q9Y223 |
|---|---|
| Clone Names | 100311179 |
| Gene ID | 10020 |
|---|---|
| Other Names | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, UDP-GlcNAc-2-epimerase/ManAc kinase, UDP-N-acetylglucosamine 2-epimerase (hydrolyzing), UDP-GlcNAc-2-epimerase, Uridine diphosphate-N-acetylglucosamine-2-epimerase, N-acetylmannosamine kinase, ManAc kinase, GNE, GLCNE |
| 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 | GNE (HGNC:23657) |
|---|---|
| Function | Bifunctional enzyme that possesses both UDP-N- acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critical precursor in the synthesis of sialic acids. By catalyzing this pivotal and rate-limiting step in sialic acid biosynthesis, this enzyme assumes a pivotal role in governing the regulation of cell surface sialylation (PubMed:2808337, PubMed:10334995, PubMed:11326336, PubMed:14707127, PubMed:16503651). Sialic acids represent a category of negatively charged sugars that reside on the surface of cells as terminal components of glycoconjugates and mediate important functions in various cellular processes, including cell adhesion, signal transduction, and cellular recognition (PubMed:10334995, PubMed:14707127). |
| Cellular Location | Cytoplasm, cytosol {ECO:0000250|UniProtKB:O35826} |
| Tissue Location | Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon. |
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Provided below are standard protocols that you may find useful for product applications.
Background
The protein encoded by this gene is a bifunctional enzymethat initiates and regulates the biosynthesis of N-acetylneuraminicacid (NeuAc), a precursor of sialic acids. It is a rate-limitingenzyme in the sialic acid biosynthetic pathway. Sialic acidmodification of cell surface molecules is crucial for theirfunction in many biologic processes, including cell adhesion andsignal transduction. Differential sialylation of cell surfacemolecules is also implicated in the tumorigenicity and metastaticbehavior of malignant cells. Mutations in this gene are associatedwith sialuria, autosomal recessive inclusion body myopathy, andNonaka myopathy. Alternative splicing of this gene results intranscript variants encoding different isoforms. [provided byRefSeq].
References
Stober, A., et al. Neuromuscul. Disord. 20(5):335-336(2010)Reinke, S.O., et al. Glycoconj. J. 26(4):415-422(2009)Tong, Y., et al. PLoS ONE 4 (10), E7165 (2009) :Reinke, S.O., et al. FEBS Lett. 581(17):3327-3331(2007)Watts, G.D., et al. Neuromuscul. Disord. 13 (7-8), 559-567 (2003) :
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