CCDC88C (gene)

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
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/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene.

Function

This 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).

Further reading

• Drielsma A, Jalas C, Simonis N, Désir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S (November 2012). "Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus". J. Med. Genet. 49 (11): 708–12. doi:10.1136/jmedgenet-2012-101190. PMID 23042809.
• 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 (May 2014). "Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms". Genes Chromosomes Cancer. 53 (5): 411–21. PMID 24772479.
• 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 (September 2014). "A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia". J. Med. Genet. 51 (9): 590–5. doi:10.1136/jmedgenet-2014-102333. PMC 4145425. PMID 25062847.
• 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 (September 2014). "A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia". J. Med. Genet. 51 (9): 590–5. doi:10.1136/jmedgenet-2014-102333. PMC 4145425. PMID 25062847.
• 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 (June 2015). "Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling". eLife. 4: e07091. doi:10.7554/eLife.07091. PMC 4484057. PMID 26126266.

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