coiled-coil and HOOK domain protein 88C

KIAA1509

DAPLE

HkRP2

SCA40

coiled-coil domain containing 88C

Dvl-associating protein with a high frequency of leucine residues

spinocerebellar ataxia 40

Protein Daple

Coiled-coil domain-containing protein 88C

Hook-related protein 2

hDaple

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].

Varaico: Literature-Extracted Genetic Variants

CCDC88C

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Previous Symbol