Radial spoke head component 1 (RSPH1)

Radial spoke head component 1 (RSPH1) is a structural protein encoded by the *RSPH1* gene and is essential for the formation and function of the radial spoke head in the axoneme, a core component of motile cilia and flagella. It plays a key role in enabling normal ciliary movement by assembling into the axonemal radial spoke complex, especially in cells bearing motile cilia such as respiratory epithelial cells and spermatogenic cells. Mutations in *RSPH1* cause a subset of primary ciliary dyskinesia (PCD), a rare genetic disorder characterized by abnormal ciliary motility and associated respiratory, reproductive, and sometimes neurological dysfunction. Phenotypic consequences in PCD include abnormal ciliary beating patterns, impaired mucociliary clearance, and associated recurrent respiratory infections[1][2][3]. RSPH1 contains multiple MORN (Membrane Occupation and Recognition Nexus) repeats, which likely contribute to its structural and regulatory roles within the axonemal complex. No current drugs target RSPH1, and its principal clinical relevance is as a causative gene in PCD rather than as a direct therapeutic target.

Other names

Radial spoke head 1 homologRSPH1TSA2TSGA2CT79FLJ32753RSP44RSPH10ACILD24Cancer/testis antigen 79Male meiotic metaphase chromosome-associated acidic proteinMeichroacidinTestis-specific gene A2 protein