BFSP1

Description

The BFSP1 gene, also known as the Brain-Specific Protein 1 gene, holds a pivotal role in the development and function of the human brain. It encodes a protein that acts as a crucial component of the cytoskeleton, the intricate network of protein filaments that provides structural support and facilitates cell movement and communication. This protein, aptly named BFSP1, is predominantly expressed in the brain, particularly in neurons, where it plays a critical role in the formation and stabilization of neuronal connections. Mutations in the BFSP1 gene can lead to a spectrum of neurological disorders, highlighting its significance in maintaining normal brain function.

Associated Diseases

• Microcephaly
• Intellectual disability
• Cerebral palsy
• Spastic paraplegia
• Epilepsy
• Autism spectrum disorder

Did you know?

BFSP1 is highly conserved across various species, suggesting its fundamental importance in brain development.