Menu
Home
People
Places
Arts
History
Plants & Animals
Science
Life & Culture
Technology
Reference.org
RSPH4A
open-in-new
<h2 id="function">Function</h2> <p>TRadial spoke head protein 4 homolog A appears to be a component the <a href="/facts/Radial_spoke/pAMAMdP2">radial spoke</a> head, as determined by homology to similar proteins in the biflagellate alga <i><a href="/facts/Chlamydomonas_reinhardtii/pycewMkj">Chlamydomonas reinhardtii</a></i> and other ciliates. Radial spokes, which are regularly spaced along <a href="/facts/Cilia/C9l436HM">cilia</a>, sperm, and flagella <a href="/facts/Axoneme/WIWNSGHb">axonemes</a>, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of <a href="/facts/Microtubule/ENL1TxSe">microtubules</a> and <a href="/facts/Dynein/oIJ7YrRu">dynein</a>.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a> </p> <h2 id="clinical-significance">Clinical significance</h2> <p>Mutations in the RSPH4A gene are associated with <a href="/facts/Primary_ciliary_dyskinesia/5JL0jCtp">primary ciliary dyskinesia</a>.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> </p> <h2 id="further-reading">Further reading</h2> <ul><li>Bonaldo MF, Lennon G, Soares MB (1996). <a href="https://doi.org/10.1101%2Fgr.6.9.791">"Normalization and subtraction: two approaches to facilitate gene discovery"</a>. <i>Genome Res</i>. 6 (9): 791–806. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.6.9.791">10.1101/gr.6.9.791</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8889548">8889548</a>.</li> <li>Strausberg RL, Feingold EA, Grouse LH, et al. (2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 99 (26): 16899–903. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M">2002PNAS...9916899M</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.242603899">10.1073/pnas.242603899</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">139241</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12477932">12477932</a>.</li> <li>Castleman VH, Romio L, Chodhari R, et al. (2009). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668031">"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities"</a>. <i>Am. J. Hum. Genet</i>. 84 (2): 197–209. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fj.ajhg.2009.01.011">10.1016/j.ajhg.2009.01.011</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668031">2668031</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/19200523">19200523</a>.</li> <li>Ota T, Suzuki Y, Nishikawa T, et al. (2004). <a href="https://doi.org/10.1038%2Fng1285">"Complete sequencing and characterization of 21,243 full-length human cDNAs"</a>. <i>Nat. Genet</i>. 36 (1): 40–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1285">10.1038/ng1285</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14702039">14702039</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd">GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia</a></li></ul> <p><i>This article incorporates text from the <a href="/facts/United_States_National_Library_of_Medicine/Hzty0MCX">United States National Library of Medicine</a>, which is in the <a href="/facts/Public_domain/YWKMDKw4">public domain</a>.</i> </p> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>"Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=345895" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=345895</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC 2668031. PMID 19200523. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668031" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668031</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=345895" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=345895</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC 2668031. PMID 19200523. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668031" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668031</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> </ol>