RSPH4A
Function
Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity).
Involvement in disease
Ciliary dyskinesia, primary, 11
CILD11
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; 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the flagellar radial spoke RSP4/6 family.
Tissue Specificity
Expressed in trachea, lungs, and testes (PubMed:23993197). Very strong expression is detected in nasal brushings (PubMed:19200523).
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Cell projection
- Cilium
Alternative names
RSHL3, RSPH4A, Radial spoke head protein 4 homolog A, Radial spoke head-like protein 3