CCDC151 explained
Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.[1]
Clinical significance
Mutations in CCDC151 are associated to Primary ciliary dyskinesia.[2]
Further reading
- Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B . 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 . February 2014 . 24067530 . 10.1093/hmg/ddt445 .
Notes and References
- Web site: 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 . Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia . Human Mutation . 35 . 12 . 1446–8 . December 2014 . 25224326 . 4489323 . 10.1002/humu.22698 .