CAMSAP2

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Title: CAMSAP2: A Critical Protein in Neuronal Development and Function

Description:

CAMSAP2 (calmodulin-regulated spectrin-associated protein 2) is a protein essential for regulating the structure and function of neurons. It plays a crucial role in axonal development, synaptic plasticity, and neuronal migration during brain development. Mutations in the CAMSAP2 gene have been linked to various neurological disorders.

Associated Diseases:

• Autism Spectrum Disorder
• Intellectual Disability
• Microcephaly (small head size)
• Epilepsy
• Rett Syndrome

Did you Know ?

Studies have shown that approximately 1% of individuals with autism spectrum disorder carry mutations in the CAMSAP2 gene.