Full name: coiled-coil domain containing 88C

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: DAPLE; HKRP2; HYC1; KIAA1509; SCA40

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

Gene size: 146498bp

Exon count: 34