RSPH9
Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.[5][6]
| RSPH9 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RSPH9, C6orf206, CILD12, MRPS18AL1, radial spoke head 9 homolog, radial spoke head component 9 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612648 MGI: 1922814 HomoloGene: 12606 GeneCards: RSPH9 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagellawhich then releases antibodies .[5]
Clinical significance
Mutation in this gene are associated with primary ciliary dyskinesia.[6]
References
- GRCh38: Ensembl release 89: ENSG00000172426 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000023966 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)".
- 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.
Further reading
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Reish O, Slatkin M, Chapman-Shimshoni D, et al. (2010). "Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families". Ann. Hum. Genet. 74 (2): 117–25. doi:10.1111/j.1469-1809.2009.00559.x. PMC 2853723. PMID 20070851.
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