CCDC151
Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.[1]
Clinical significance
Clinical significance
Mutations in CCDC151 are associated to Primary ciliary dyskinesia .[2]
References
References
- ↑ “Entrez Gene: Coiled-coil domain containing 151”.
- ↑ Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN (December 2014). “Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia”. Human Mutation. 35 (12): 1446–8. doi:10.1002/humu.22698. PMC 4489323. PMID 25224326.
Further reading
Further reading
- Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B (February 2014). “The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals”. Human Molecular Genetics. 23 (3): 563–77. doi:10.1093/hmg/ddt445. PMID 24067530.
External links
External links
- Human CCDC151 genome location and CCDC151 gene details page in the UCSC Genome Browser.
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