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Protein-coding gene in humans
Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene .[ 5]
Clinical significance [ edit ]
Mutations in CCDC151 are associated to Primary ciliary dyskinesia .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000198003 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039632 – 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: 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 .
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 .