glucosamine (UDP-N-acetyl) -2-epimerase/N-acetylmannosamine kinase, ELISA Kit

Human Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) ELISA kit; DMRV; GLCNE; IBM2; NM; Uae1; N-acylmannosamine kinase; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; glucosamine (UDP-N-acetyl) -2-epimerase/N-acetylmannosamine kinase

For Research Use Only. Not for use in diagnostic procedures.

No significant cross-reactivity or interference between this analyte and analogues is observed.

Store all reagents at 2-8 degree C

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Small volumes of GNE elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9323925 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the glucosamine (UDP-N-acetyl) -2-epimerase/N-acetylmannosamine kinase (GNE) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing GNE. The ELISA analytical biochemical technique of the MBS9323925 kit is based on GNE antibody-GNE antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect GNE antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, GNE. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of GNE (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.

79,275 Da

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; N-acylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

GLCNE  [Similar Products]

GLCNE_HUMAN

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]

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 ***** 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 *****hood, 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: EC 3.2.1.183; Carbohydrate Metabolism - amino sugar and nucleotide sugar; Motility/polarity/chemotaxis; Isomerase; Cytoskeletal; Kinase, other; Cell adhesion; EC 2.7.1.60

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; post-translational protein modification; cell adhesion; N-acetylneuraminate metabolic process

Disease: Inclusion Body Myopathy 2, Autosomal Recessive; Nonaka Myopathy; Sialuria

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