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RSPH3

Official Full Name
radial spoke head 3
Organism
Homo sapiens
GeneID
83861
Background
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]
Synonyms
RSP3; RSHL2; CILD32; dJ111C20.1;

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