RSPH3, Official Symbol RSPH3provided by HGNC Official Full Name radial spoke head 3provided by HGNC Primary source HGNC:HGNC:21054 See related Ensembl:ENSG00000130363 MIM:615876; AllianceGenome:HGNC:21054 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RSP3; RSHL2; CILD32; dJ111C20.1 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] Expression Ubiquitous expression in thyroid (RPKM 4.1), testis (RPKM 3.3) and 25 other tissues See more Orthologs all