Contactin-associated protein 1

Definition:

Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells.

References:

[1]. Holger Hengel, et al. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurol Genet. 2017 Mar 22;3(2):e144. [Content Brief]

[2]. Annie Laquérriere, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 May 1;23(9):2279-89. [Content Brief]

[3]. Jean-Michel Vallat, et al. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. J Neuropathol Exp Neurol. 2016 Dec 1;75(12):1155-1159. [Content Brief]

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