Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
CCDC151
Introduction
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.