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Immunogen sequence: NGSVGKGPGD LKPKRGSPHR GSLDRTDAST DLAMRSWPSE LGSRTCSTSA TTTAPSNSTP IARHPGRTKG YNSDDNLCEP SLE
Antigen sequence identity: Mouse 78%; Rat 76%
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the disheveled protein and is a negative regulator of the Wnt signaling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the disheveled protein. Disheveled 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Coiled-coil domain-containing protein 88C; Dvl-associating protein with a high frequency of leucine residues; hDaple; HkRP2; Hook-related protein 2; Protein Daple; spinocerebellar ataxia 40
Gene Aliases: CCDC88C; DAPLE; HKRP2; KIAA1509; SCA40
UniProt ID: (Human) Q9P219
Entrez Gene ID: (Human) 440193
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