CCDC40 (gene): Difference between revisions

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{{Underlinked|date=August 2014}}
{{Underlinked|date=August 2014}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Coiled-coil domain containing 40''' is a [[protein]] that in humans is encoded by the CCDC40 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Coiled-coil domain containing 40 | url = https://www.ncbi.nlm.nih.gov/gene/55036 }}</ref>
'''Coiled-coil domain containing 40''' is a [[protein]] that in humans is encoded by the CCDC40 [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Coiled-coil domain containing 40 | url = https://www.ncbi.nlm.nih.gov/gene/55036 }}</ref>


== Function ==
== Function ==
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].


== References ==
== References ==
{{reflist}}
{{Reflist}}
 
==External links==
* {{UCSC gene info|CCDC40}}


== Further reading ==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Wang J, Lin J, Chang Y, Li P, Yang Y | title = MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis | journal = Journal of Huazhong University of Science and Technology | volume = 30 | issue = 4 | pages = 425–9 | date = August 2010 | pmid = 20714864 | doi = 10.1007/s11596-010-0443-3 }}
* {{cite journal | vauthors = Wang J, Lin J, Chang Y, Li P, Yang Y | title = MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis | journal = Journal of Huazhong University of Science and Technology | volume = 30 | issue = 4 | pages = 425–9 | date = August 2010 | pmid = 20714864 | doi = 10.1007/s11596-010-0443-3 }}
* {{cite journal | vauthors = Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Zariwala MA, Knowles MR, Leigh MW| title = Primary Ciliary Dyskinesia | year = 1993 | pmid = 20301301 }}
* {{cite journal | vauthors = Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Zariwala MA, Knowles MR, Leigh MW| title = Primary Ciliary Dyskinesia | year = 1993 | pmid = 20301301 }}
* {{cite journal | vauthors = Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S | title = Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia | journal = Journal of Medical Genetics | volume = 49 | issue = 6 | pages = 410–6 | date = June 2012 | pmid = 22693285 | doi = 10.1136/jmedgenet-2012-100867 }}
* {{cite journal | vauthors = Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S | title = Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia | journal = Journal of Medical Genetics | volume = 49 | issue = 6 | pages = 410–6 | date = June 2012 | pmid = 22693285 | doi = 10.1136/jmedgenet-2012-100867 }}
* {{cite journal | vauthors = Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD | title = The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation | journal = Nature Genetics | volume = 43 | issue = 1 | pages = 79–84 | date = January 2011 | pmid = 21131974 | pmc = 3132183 | doi = 10.1038/ng.727 }}
* {{cite journal | vauthors = Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD | title = The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation | journal = Nature Genetics | volume = 43 | issue = 1 | pages = 79–84 | date = January 2011 | pmid = 21131974 | pmc = 3132183 | doi = 10.1038/ng.727 }}
{{refend}}


{{refend}}
==External links==
* {{UCSC gene info|CCDC40}}


{{NLM content}}
{{NLM content}}

Latest revision as of 09:08, 4 January 2019

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

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

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

Coiled-coil domain containing 40 is a protein that in humans is encoded by the CCDC40 gene.[1]

Function

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011].

References

  1. ↑ "Entrez Gene: Coiled-coil domain containing 40".

Further reading

  • Wang J, Lin J, Chang Y, Li P, Yang Y (August 2010). "MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis". Journal of Huazhong University of Science and Technology. 30 (4): 425–9. doi:10.1007/s11596-010-0443-3. PMID 20714864.
  • Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K, Zariwala MA, Knowles MR, Leigh MW (1993). "Primary Ciliary Dyskinesia". PMID 20301301.
  • Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S (June 2012). "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical Genetics. 49 (6): 410–6. doi:10.1136/jmedgenet-2012-100867. PMID 22693285.
  • Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD (January 2011). "The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation". Nature Genetics. 43 (1): 79–84. doi:10.1038/ng.727. PMC 3132183. PMID 21131974.

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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