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Gene-specific Copy Number Variation Probe-PDHX

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Catalog: CNVFP-PDHX-15373
Classification: Copy Number Variation
Description: Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (PDHX). The product usually consists of a combination of reagents, which consists of a probe with a selected dye color and a hybridization reagent. We provide CNV FISH Probes with a variety of dye color combinations to meet various challenges. Probe products not only provide some classic color combinations but also provide customized probe services.
Application: PDHX Gene-specific copy number variation probes are mainly used to detect the copy number variation related to PDHX genes. This product achieves the purpose of detection by hybridizing with the PDHX gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH.
Category: Copy Number Variation
Probe Kits Volume (µL): 40 μL
Quantity: 20 Tests
Hybridization Solution (µL): 200 μL
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping
Storage Conditions: Store at -20℃ and avoid light;
Shipping Conditions: -20℃

Gene Details

Gene Name Pyruvate Dehydrogenase Complex Component X
Gene Summary [Provided by RefSeq] The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Gene Symbol PDHX
Location 11p13
Chromosome Chromosome11
Coordinates This gene maps to 34937676-35017675 in GRCh37 coordinates.
Species Human

Order Sheet

Number Dye Color Order Name Absorbance Maximum Emission Maximum Add to Cart
1 OR CNVFP-PDHX-15373-OR 573nm 548nm
2 RE CNVFP-PDHX-15373-RE 599nm 580nm
3 GO CNVFP-PDHX-15373-GO 551nm 525nm
4 GR CNVFP-PDHX-15373-GR 515nm 491nm
5 AQ CNVFP-PDHX-15373-AQ 467nm 418nm

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