Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.[5]

Clinical significance

Mutations in CCDC151 are associated to Primary ciliary dyskinesia.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198003 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039632 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Coiled-coil domain containing 151".
  6. ^ 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

  • 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