Pigeon Dynein Assembly Factor 1, Axonemal (LRRC50) ELISA Kit | LRRC50 elisa kit
Pigeon Dynein Assembly Factor 1, Axonemal (LRRC50) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Uniprot Description
LRRC50: Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. Defects in DNAAF1 are the cause of primary ciliary dyskinesia type 13 (CILD13). A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the cilia. Belongs to the DNAAF1 family. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 16q24.1
Cellular Component: axoneme; cytoplasm; cytosol; nuclear speck; plasma membrane; spindle pole
Biological Process: heart looping; lung development
Disease: Ciliary Dyskinesia, Primary, 13
Research Articles on LRRC50
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Product Notes
The Pigeon LRRC50 dnaaf1 (Catalog #AAA9900103) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9900103 ELISA Kit recognizes Pigeon LRRC50. It is sometimes possible for the material contained within the vial of "Dynein Assembly Factor 1, Axonemal (LRRC50), 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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