RSPH1
Function
Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.
Involvement in disease
Ciliary dyskinesia, primary, 24
CILD24
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients.
None
The disease is caused by variants affecting the gene represented in this entry. RSPH1 mutations result in a primary ciliary diskinesia phenotype with defects of the radial spokes and the axonemal central pair of microtubules (PubMed:23993197).
Tissue Specificity
Expressed in trachea, lungs, airway brushings, and testes.
Cellular localization
- Cytoplasm
- Chromosome
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Cytoplasm
- Cytoskeleton
- Flagellum axoneme
- Cytoplasmic in late spermatocytes, secondary spermatocytes and round spermatids. Gathered around metaphase chromosomes during meiotic divisions.
Alternative names
TSA2, TSGA2, RSPH1, Radial spoke head 1 homolog, Cancer/testis antigen 79, Male meiotic metaphase chromosome-associated acidic protein, Meichroacidin, Testis-specific gene A2 protein, CT79