BFSP2

Description

The BFSP2 gene, located on chromosome 17, plays a crucial role in brain development and function. It encodes the brain-specific fasciculation protein 2 (BFSP2), a protein involved in axonal guidance and neuronal migration during embryonic development. BFSP2 is essential for proper neuronal connectivity and the formation of complex neural circuits. Mutations in the BFSP2 gene can lead to a variety of neurodevelopmental disorders, highlighting its importance in maintaining brain health.

Associated Diseases

• Microtubule-associated protein 2B (MAP2B) deficiency
• Intellectual disability
• Cerebral palsy
• Spastic paraplegia
• Seizures
• Autism spectrum disorder

Did you know?

BFSP2 protein is highly expressed in the developing brain and is essential for the formation of the corpus callosum, the thick band of nerve fibers that connects the two hemispheres of the brain.