Human chromosome 6 open reading frame 206 ELISA Kit | C6orf206 elisa kit
Human Radial spoke head protein 9 homolog, C6orf206 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Uniprot Description
RSPH9: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. Defects in RSPH9 are the cause of primary ciliary dyskinesia type 12 (CILD12). CILD 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. Belongs to the flagellar radial spoke RSP9 family. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 6p21.1
Cellular Component: cytoskeleton; axoneme
Biological Process: axoneme biogenesis
Disease: Ciliary Dyskinesia, Primary, 12
Research Articles on C6orf206
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Product Notes
The Human C6orf206 rsph9 (Catalog #AAA9333506) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9333506 ELISA Kit recognizes Human C6orf206. It is sometimes possible for the material contained within the vial of "chromosome 6 open reading frame 206, 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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