RSPH9
Description
The RSPH9 (radial spoke head component 9) is a protein-coding gene located on chromosome 6.
The RSPH9 gene in humans encodes a protein called Radial spoke head protein 9 homolog. This protein is believed to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia, a condition affecting the movement of cilia and flagella.
RSPH9 plays a crucial role in the movement of sperm and cilia by being part of the radial spoke complexes within the axoneme. It is essential for the assembly of the radial spoke head and stability of the central pair microtubules in ependymal motile cilia. Additionally, RSPH9 is required for the movement of olfactory and neural cilia and the structural integrity of ciliary axonemes in both 9+0 and 9+2 motile cilia.
RSPH9 is also known as C6orf206, CILD12, MRPS18AL1.
