CASPR

CASPR (Contactin Associated Protein-like) is a protein that in humans is encoded by the CNTNAP2 gene. CASPR is a member of the neurexin family, which function in the vertebrate nervous system as cell adhesion molecules and receptors.

Function

CASPR is part of the neurexin family and subfamily of proteins, known to be involved in the formation and function of the nodes of Ranvier, specialized regions of the neuron involved in the propagation of action potentials. It is a cell adhesion molecule, which makes it crucial for the correct functioning of the nervous system.

Clinical significance

Mutations in the CNTNAP2 gene, which codes for CASPR, have been associated with a variety of neurological disorders, such as autism, epilepsy, and schizophrenia. Studies have shown that these mutations can lead to the disruption of the normal formation and function of the nodes of Ranvier, leading to the neurological symptoms observed in these disorders.

Research

Research into CASPR and its associated gene, CNTNAP2, is ongoing. Understanding the exact mechanisms by which mutations in this gene lead to neurological disorders could potentially lead to new treatments and therapies.

See also

• Neurexin
• Node of Ranvier
• Autism
• Epilepsy
• Schizophrenia

References

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