Aliases for RSPH3 Gene
External Ids for RSPH3 Gene
Previous HGNC Symbols for RSPH3 Gene
Previous GeneCards Identifiers for RSPH3 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]
GeneCards Summary for RSPH3 Gene
RSPH3 (Radial Spoke Head 3 Homolog) is a Protein Coding gene. Diseases associated with RSPH3 include Ciliary Dyskinesia, Primary, 32 and Primary Ciliary Dyskinesia 32: Rsph3-Related Primary Ciliary Dyskinesia.
UniProtKB/Swiss-Prot for RSPH3 Gene
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.