Decoding the Genes Behind Autism Spectrum Disorder｜CNTNAP2

Autism Spectrum Disorder (ASD) refers to a broad range of complex neurodevelopmental conditions that have many theorized causative factors, but there have been many genetic mutations associated with susceptibility to autism and altered brain structure associated with ASD.
CNTNAP2 encodes a neuronal transmembrane protein member of the Neurexin superfamily, which is involved in neuron-glial cell interaction and the accumulation of calcium channels in myelinated axons. Mutations in CNTNAP2 were originally shown to be associated with cortical dysplasia-focal epilepsy syndrome (CDFE), a rare disorder that causes seizures, language regression, intellectual disability, and hyperactivity. New evidence has linked variations of the CNTNAP2 gene with several neurodevelopmental disorders, including ASD.

More information about ASD could be found at

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More information about genes and diseases could be found in the Rare Disease Data Center (RDDC)

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