RSPH3 gene

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:

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]

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)

• CILD32
• dJ111C20.1
• RSHL2
• RSP3