Gene: RSPH3

Alternate names for this Gene: CILD32|RSHL2|RSP3|dJ111C20.1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.3

Description of this Gene: radial spoke head 3

Type of Gene: protein-coding