Typical Testing Data/Standard Curve (for reference only)
Human Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase (GNE) ELISA Kit | GNE elisa kit
Human Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase (GNE) ELISA Kit
Typical Testing Data/Standard Curve (for reference only)
Typical Testing Data/Standard Curve (for reference only)
Principle of the Assay: GNE ELISA kit applies the competitive enzyme immunoassay technique utilizing a polyclonal anti-GNE antibody and an GNE-HRP conjugate. The assay sample and buffer are incubated together with GNE-HRP conjugate in pre-coated plate for one hour. After the incubation period, the wells are decanted and washed five times. The wells are then incubated with a substrate for HRP enzyme. The product of the enzyme-substrate reaction forms a blue colored complex. Finally, a stop solution is added to stop the reaction, which will then turn the solution yellow. The intensity of color is measured spectrophotometrically at 450nm in a microplate reader. The intensity of the color is inversely proportional to the GNE concentration since GNE from samples and GNE-HRP conjugate compete for the anti-GNE antibody binding site. Since the number of sites is limited, as more sites are occupied by GNE from the sample, fewer sites are left to bind GNE-HRP conjugate. A standard curve is plotted relating the intensity of the color (O.D.) to the concentration of standards. The GNE concentration in each sample is interpolated from this standard curve.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Uniprot Description
GNE: Regulates and initiates biosynthesis of N- acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development. Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. Defects in GNE are a cause of sialuria (SIALURIA); also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2). Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy. Defects in GNE are the cause of Nonaka myopathy (NM); also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Kinase, other; Isomerase; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Cytoskeletal; EC 3.2.1.183; Motility/polarity/chemotaxis; EC 2.7.1.60; Cell adhesion
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component: cytoplasm; cytosol
Molecular Function: metal ion binding; UDP-N-acetylglucosamine 2-epimerase activity; ATP binding; hydrolase activity, hydrolyzing O-glycosyl compounds; N-acylmannosamine kinase activity
Biological Process: N-acetylglucosamine biosynthetic process; UDP-N-acetylglucosamine metabolic process; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; carbohydrate phosphorylation; protein amino acid N-linked glycosylation via asparagine; cell adhesion; post-translational protein modification; N-acetylneuraminate metabolic process
Disease: Inclusion Body Myopathy 2, Autosomal Recessive; Nonaka Myopathy; Sialuria
Research Articles on GNE
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Product Notes
The Human GNE gne (Catalog #AAA7244821) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7244821 ELISA Kit recognizes Human GNE. It is sometimes possible for the material contained within the vial of "Bifunctional UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase (GNE), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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