| 释义 |
- Function
- References
- Further reading
{{Orphan|date=August 2018}}{{Infobox_gene}}Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene. [1]FunctionThis gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ domain binding motif in its C-terminus, with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus, a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain (provided by RefSeq, Jan 2013). References 1. ^{{cite web| title = Entrez Gene: Coiled-coil domain containing 88C| url = https://www.ncbi.nlm.nih.gov/gene/440193| accessdate = 2018-03-14}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Drielsma A, Jalas C, Simonis N, Désir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S |title=Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus |journal=J. Med. Genet. |volume=49 |issue=11 |pages=708–12 |date=November 2012 |pmid=23042809 |doi=10.1136/jmedgenet-2012-101190 |url=}}
- {{cite journal |vauthors=Gosenca D, Kellert B, Metzgeroth G, Haferlach C, Fabarius A, Schwaab J, Kneba M, Scheid C, Töpelt K, Erben P, Haferlach T, Cross NC, Hofmann WK, Seifarth W, Reiter A |title=Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms |journal=Genes Chromosomes Cancer |volume=53 |issue=5 |pages=411–21 |date=May 2014 |pmid=24772479 |doi= |url=}}
- {{cite journal |vauthors=Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY |title=A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia |journal=J. Med. Genet. |volume=51 |issue=9 |pages=590–5 |date=September 2014 |pmid=25062847 |pmc=4145425 |doi=10.1136/jmedgenet-2014-102333 |url=}}
- {{cite journal |vauthors=Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY |title=A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia |journal=J. Med. Genet. |volume=51 |issue=9 |pages=590–5 |date=September 2014 |pmid=25062847 |pmc=4145425 |doi=10.1136/jmedgenet-2014-102333 |url=}}
- {{cite journal |vauthors=Aznar N, Midde KK, Dunkel Y, Lopez-Sanchez I, Pavlova Y, Marivin A, Barbazán J, Murray F, Nitsche U, Janssen KP, Willert K, Goel A, Abal M, Garcia-Marcos M, Ghosh P |title=Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling |journal=eLife |volume=4 |issue= |pages=e07091 |date=June 2015 |pmid=26126266 |pmc=4484057 |doi=10.7554/eLife.07091 |url=}}
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