CCDC151: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
 
'''Coiled-coil domain containing 151''' is a [[protein]] that in humans is encoded by the CCDC151 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Coiled-coil domain containing 151 | url = https://www.ncbi.nlm.nih.gov/gene/115948 }}</ref>
'''Coiled-coil domain containing 151''' is a [[protein]] that in humans is encoded by the CCDC151 [[gene]].
<ref name="entrez">
{{cite web
| title = Entrez Gene: Coiled-coil domain containing 151
| url = https://www.ncbi.nlm.nih.gov/gene/115948
| accessdate = 2014-09-17 <!-- T03:31:26.253332-08:00 -->
}}</ref>


== Clinical significance ==
== Clinical significance ==


Mutations in CCDC151 are associated to {{SWL|type=mutations_associated_to|target=Primary ciliary dyskinesia|label=Primary ciliary dyskinesia}}.<ref>{{Cite journal
Mutations in CCDC151 are associated to {{SWL|type=mutations_associated_to|target=Primary ciliary dyskinesia|label=Primary ciliary dyskinesia}}.<ref>{{cite journal | vauthors = Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN | title = Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia | journal = Human Mutation | volume = 35 | issue = 12 | pages = 1446–8 | date = December 2014 | pmid = 25224326 | pmc = 4489323 | doi = 10.1002/humu.22698 }}</ref>
| pmid = 25224326
| year = 2014
| author1 = Alsaadi
| first1 = M. M.
| title = Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia
| journal = Human Mutation
| pages = 1446–8
| last2 = Erzurumluoglu
| first2 = A. M.
| last3 = Rodriguez
| first3 = S
| last4 = Guthrie
| first4 = P. A.
| last5 = Gaunt
| first5 = T. R.
| last6 = Omar
| first6 = H. Z.
| last7 = Mubarak
| first7 = M
| last8 = Alharbi
| first8 = K. K.
| last9 = Al-Rikabi
| first9 = A. C.
| last10 = Day
| first10 = I. N.
| doi = 10.1002/humu.22698
| volume=35
| pmc=4489323
}}</ref>


== References ==
== References ==
{{reflist}}
{{reflist}}
==External links==
* {{UCSC gene info|CCDC151}}


== Further reading ==
== Further reading ==
 
{{refbegin}}
{{refbegin | 2}}
* {{cite journal | vauthors = Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B | title = The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals | journal = Human Molecular Genetics | volume = 23 | issue = 3 | pages = 563–77 | date = February 2014 | pmid = 24067530 | doi = 10.1093/hmg/ddt445 }}
*{{Cite journal
| pmid = 24067530
| year = 2014
| author1 = Jerber
| first1 = J
| title = The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals
| journal = Human Molecular Genetics
| volume = 23
| issue = 3
| pages = 563–77
| last2 = Baas
| first2 = D
| last3 = Soulavie
| first3 = F
| last4 = Chhin
| first4 = B
| last5 = Cortier
| first5 = E
| last6 = Vesque
| first6 = C
| last7 = Thomas
| first7 = J
| last8 = Durand
| first8 = B
| doi = 10.1093/hmg/ddt445
}}
 
{{refend}}
{{refend}}


== External links ==
* {{UCSC gene info|CCDC151}}


{{gene-19-stub}}
{{gene-19-stub}}

Latest revision as of 16:22, 3 February 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]

References

  1. ↑ "Entrez Gene: Coiled-coil domain containing 151".
  2. ↑ 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

Retrieved from "https://www.wikidoc.org/index.php?title=CCDC151&oldid=1529978"