CCDC88C, Official Symbol CCDC88Cprovided by HGNC Official Full Name coiled-coil domain containing 88Cprovided by HGNC Primary source HGNC:HGNC:19967 See related Ensembl:ENSG00000015133 MIM:611204; AllianceGenome:HGNC:19967 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HYC1; DAPLE; HKRP2; SCA40; KIAA1509 Summary 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] Expression Broad expression in lymph node (RPKM 9.5), spleen (RPKM 8.3) and 24 other tissues See more Orthologs mouse all