Human intraflagellar transport 80 homolog (Chlamydomonas) ELISA Kit | IFT80 elisa kit
Human Intraflagellar transport protein 80 homolog, IFT80 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
Uniprot Description
IFT80: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. Defects in IFT80 are the cause of asphyxiating thoracic dystrophy type 2 (ATD2). An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood.
Chromosomal Location of Human Ortholog: 3q25.33
Cellular Component: centrosome; cytoplasm; cilium
Biological Process: osteoblast differentiation; smoothened signaling pathway; organelle organization and biogenesis; cilium biogenesis; positive regulation of smoothened signaling pathway; chondrocyte differentiation; negative regulation of epithelial cell proliferation
Disease: Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly
Research Articles on IFT80
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Product Notes
The Human IFT80 ift80 (Catalog #AAA9319455) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9319455 ELISA Kit recognizes Human IFT80. It is sometimes possible for the material contained within the vial of "intraflagellar transport 80 homolog (Chlamydomonas), 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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