Target intelligence / Profile preview

Radial spoke head protein 9 homolog (RSPH9)

Target
RSPH9
Molecular classification
Other, Structural ciliary protein, Axonemal protein
01

Overview

Radial spoke head protein 9 homolog (RSPH9) is a structural protein component of the radial spoke head complex found in motile cilia and flagella. It helps form the core scaffold of the radial spoke head, a mechanochemical signaling structure critical for the proper motility and waveform of cilia. The protein is essential for the assembly and maintenance of the radial spoke apparatus and for the stability of the central microtubule pair in cilia. Germline mutations in RSPH9 disrupt cilia and sperm motility, resulting in primary ciliary dyskinesia, a recessive genetic disorder characterized by impaired mucociliary clearance, chronic respiratory infections, and, in some cases, infertility and sensory defects. There are no known drugs directly targeting RSPH9, and its principal biological roles are structural and essential for organelle function rather than classical pharmacology.

Other names
C6orf206MRPS18AL1FLJ30845CILD12radial spoke head component 9RSPH9
02

Biological functions

Ciliary motilitySperm motilityStructural integrity of axonemes in motile ciliaAssembly of the radial spoke headCentral pair microtubule stability
03

Disease associations

Primary ciliary dyskinesiaHearing impairment (in model organisms)
04

Safety considerations

Loss-of-function variants disrupt ciliary motility, causing chronic respiratory infections, fertility problems, and possible hearing impairment
05

Biomarkers

Biallelic pathogenic variant in *RSPH9* as a diagnostic biomarker for primary ciliary dyskinesia

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