Gene Symbol | RSPH3 |
Entrez Gene ID | 83861 |
Full Name | radial spoke head 3 homolog |
Synonyms | CILD32,RSHL2,RSP3,dJ111C20.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
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. [provided by RefSeq, Dec 2016]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 32, 616481 (3) |