Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases

The European Journal of Neuroscience
Margaux Saint-MartinJérôme Honnorat

Abstract

Contactin-associated protein-like 2 (CASPR2) is a cell adhesion protein of the neurexin family. Proteins of this family have been shown to play a role in the development of the nervous system, in synaptic functions, and in neurological diseases. Over recent years, CASPR2 function has gained an increasing interest as demonstrated by the growing number of publications. Here, we gather published data to comprehensively review CASPR2 functions within the nervous system in relation to CASPR2-related diseases in humans. On the one hand, studies on Cntnap2 (coding for CASPR2) knockout mice revealed its role during development, especially, in setting-up the inhibitory network. Consistent with this result, mutations in the CNTNAP2 gene coding for CASPR2 in human have been identified in neurodevelopmental disorders such as autism, intellectual disability, and epilepsy. On the other hand, CASPR2 was shown to play a role beyond development, in the localization of voltage-gated potassium channel (VGKC) complex that is composed of TAG-1, Kv1.1, and Kv1.2. This complex was found in several subcellular compartments essential for action potential propagation: the node of Ranvier, the axon initial segment, and the synapse. In line with a role of...Continue Reading

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Citations

Dec 4, 2019·Psychiatry and Clinical Neurosciences·Ken-Ichiro Kubo
Jan 9, 2020·Journal of Neurology·Matthew BoykoGerald Pfeffer
Aug 13, 2020·Brain and Behavior·Prinska GhimireRajeev Ojha
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Apr 6, 2021·Frontiers in Aging Neuroscience·David VogrincVita Dolžan
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Jun 3, 2021·Brain Sciences·Marianthi GeorgitsiEleni Bonti

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