Copine VI

Alternative Names

  • CPNE6
  • N-Copine
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OMIM Number

605688

Gene Map Locus
14q11.2

Description

The CPNE6 gene encodes Copine VI, a member of the copine protein family. Copines are evolutionarily conserved calcium-dependent phospholipid-binding proteins. Copine VI contains two N-terminal C2 domains with aspartate residues required for calcium and phospholipid binding as well as a C-terminal von Willebrand factor A domain. While the exact function of this protein is yet to be elucidated, it is predicted to play a role in membrane trafficking and synaptic plasticity. Its location in the cell body and dendrites of neurons suggests a role for copine VI in postsynaptic events.

Molecular Genetics

The CPNE6 gene is located on the long arm of chromosome 14 at position 14q11.2. It spans a length of 7 kb and its coding sequence is spread across 18 exons. The protein product encoded by CPNE6 has a molecular mass of 61.9 kDa and consists of 557 amino acids. Alternative splicing results in an additional isoform made up of 612 amino acids. The gene is found to be overexpressed in the brain, spinal cord, retina and seminal vesicle.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) demonstrated the efficiency of genomic tools as a diagnostic test by analyzing 337 Intellectual Disability (ID) patients. The genomic approach was found to have a higher diagnostic yield than standard clinical evaluations (58% vs 16%). Exome sequencing uncovered a homozygous c.1193G>A (p.Arg398His) mutation in the CPNE6 gene of a 14 year old Saudi girl. The patient belonged to a consanguineous family and suffered from neurodegeneration, strabismus, nystagmus, dysarthria, hypotonia, hyporeflexia and cerebral white matter hyper-intensity. It was noted that Cpne6 knockout mice have deficient hippocampal long-term potentiation and that the gene is needed for synaptic plasticity. Furthermore, the identified amino acid change occurred in the vWFA domain and was predicted to affect ligand binding.  

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