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CCDC88C (gene)

From Wikipedia, the free encyclopedia
CCDC88C
Identifiers
AliasesCCDC88C, DAPLE, HKRP2, KIAA1509, SCA40, coiled-coil domain containing 88C, HYC1
External IDsOMIM: 611204; MGI: 1915589; HomoloGene: 18903; GeneCards: CCDC88C; OMA:CCDC88C - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001080414

NM_026681
NM_001362342

RefSeq (protein)

NP_001073883

NP_080957
NP_001349271

Location (UCSC)Chr 14: 91.27 – 91.42 MbChr 12: 100.88 – 101 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-coil domain containing 88C is a protein that in humans is encoded by the CCDC88C gene. [5]

Function

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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, 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).

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000015133Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021182Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Coiled-coil domain containing 88C". Retrieved 2018-03-14.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.