RSPH3 gene
radial spoke head 3 homolog
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
From UniProt:
Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia.
Related Information
From NCBI Gene:
- Ciliary dyskinesia, primary, 32
From UniProt:
Ciliary dyskinesia, primary, 32 (CILD32): 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. [MIM:616481]
Related Information
Cytogenetic Location: 6q25.3, which is the long (q) arm of chromosome 6 at position 25.3
Molecular Location: base pairs 158,947,012 to 159,000,426 on chromosome 6 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Related Information
- CILD32
- dJ111C20.1
- RSHL2
- RSP3