Human dynein, axonemal, intermediate chain 1 ELISA Kit | DNAI1 elisa kit
Human Dynein intermediate chain 1, axonemal, DNAI1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Uniprot Description
DNAI1: Part of the dynein complex of respiratory cilia. Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1). CILD1 is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Defects in DNAI1 are the cause of Kartagener syndrome (KTGS). KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). Belongs to the dynein intermediate chain family.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component: dynein complex; microtubule; cytoskeleton; cytoplasm; cilium
Molecular Function: protein binding; motor activity
Biological Process: cell projection organization and biogenesis; metabolic process
Disease: Ciliary Dyskinesia, Primary, 1
Research Articles on DNAI1
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Product Notes
The Human DNAI1 dnai1 (Catalog #AAA9334054) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9334054 ELISA Kit recognizes Human DNAI1. It is sometimes possible for the material contained within the vial of "dynein, axonemal, intermediate chain 1, 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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