Aliases for CCDC88C Gene
External Ids for CCDC88C Gene
Previous HGNC Symbols for CCDC88C Gene
Previous GeneCards Identifiers for CCDC88C Gene
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 maintenance, 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]
GeneCards Summary for CCDC88C Gene
CCDC88C (Coiled-Coil Domain Containing 88C) is a Protein Coding gene. Diseases associated with CCDC88C include Spinocerebellar Ataxia 40 and Hydrocephalus, Nonsyndromic, Autosomal Recessive. Among its related pathways are Ectoderm Differentiation and WNT mediated activation of DVL. GO annotations related to this gene include oxidoreductase activity and protein self-association. An important paralog of this gene is CCDC88A.
UniProtKB/Swiss-Prot for CCDC88C Gene
Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847).