RSPH9
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.{{cite web | title = Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=221421}}{{cite journal |vauthors=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 | title = Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities | journal = Am. J. Hum. Genet. | volume = 84 | issue = 2 | pages = 197–209 |date=February 2009 | pmid = 19200523 | pmc = 2668031 | doi = 10.1016/j.ajhg.2009.01.011 }}
Function
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagellawhich then releases antibodies .
Clinical significance
Mutation in this gene are associated with primary ciliary dyskinesia.
References
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Further reading
{{refbegin | 2}}
- {{cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |bibcode=2003Natur.425..805M |doi-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928}}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 |pmc=1356129}}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Reish O, Slatkin M, Chapman-Shimshoni D, etal |title=Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. |journal=Ann. Hum. Genet. |volume=74 |issue= 2 |pages= 117–25 |year= 2010 |pmid= 20070851 |doi= 10.1111/j.1469-1809.2009.00559.x |pmc=2853723}}
{{refend}}
External links
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia]
{{Ciliary proteins}}
{{gene-6-stub}}