background:
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.
Subcellular Location:
Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable).
DISEASE:
Defects in RSPH9 are the cause of primary ciliary dyskinesia type 12 (CILD12) [MIM:612650]. 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.
Similarity:
Belongs to the flagellar radial spoke RSP9 family.
Database links:
Entrez Gene: 221421 Human
Omim: 612648 Human
SwissProt: Q9H1X1 Human
Unigene: 534585 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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