CAMSAP2
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.
