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Gene : CCDC88C Homo sapiens

Name  ? coiled-coil domain containing 88C Cytological Location  14q32.11-q32.12
Brief Description  coiled-coil domain containing 88C
Description  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]
  • synonyms:
  • spinocerebellar ataxia 40,
  • uc010aty.4,
  • Dvl-associating protein with a high frequency of leucine residues,
  • OTTHUMG00000171099,
  • HKRP2,
  • DAPLE,
  • HGNC:19967,
  • HkRP2,
  • CCDC88C,
  • SCA40,
  • NM_001080414,
  • DAPLE,
  • KIAA1509,
  • KIAA1509,
  • HYC1,
  • SCA40
  • identifiers:
  • 440193,
  • ENSG00000015133,
  • CCDC88C

Genome feature

Region: gene ? Length: 146498  
Location: 14:91271323-91417820 reverse strand Cyto location: 14q32.11-q32.12

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2 Diseases

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3740 SNPs

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results