CCDC88C gene

coiled-coil domain containing 88C

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Negative regulator of the canonical Wnt signaling pathway, acting downstream of DVL to inhibit CTNNB1/Beta-catenin stabilization (By similarity). May also activate the JNK signaling pathway (PubMed:25062847).

From NCBI Gene:

  • Hydrocephalus
  • Spinocerebellar ataxia 40

From UniProt:

Hydrocephalus, non-syndromic, autosomal recessive 1 (HYC1): A disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment. [MIM:236600]

Spinocerebellar ataxia 40 (SCA40): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. [MIM:616053]

Cytogenetic Location: 14q32.11-q32.12, which is the long (q) arm of chromosome 14 between positions 32.11 and 32.12

Molecular Location: base pairs 91,271,323 to 91,418,498 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q32.11-q32.12, which is the long (q) arm of chromosome 14 between positions 32.11 and 32.12
  • HKRP2
  • KIAA1509
  • SCA40