SPANXN2
The Spanxn2 Gene: A Key Player in Neurodevelopment and Disease
Description:
The spanxn2 gene, also known as the spastic paraplegia 2 gene, plays a crucial role in neurodevelopment. It encodes the protein SPANXN2, which is essential for the proper organization and function of neurons, the cells that transmit information in the brain and spinal cord.
Associated Diseases:
Mutations in the spanxn2 gene have been linked to a range of neurological disorders, including:
- Hereditary spastic paraplegia type 2 (HSP2): A progressive condition that affects the lower limbs, leading to muscle weakness and spasticity.
- Schizophrenia: A severe mental illness characterized by hallucinations, delusions, and disorganized thinking.
- Autism spectrum disorder (ASD): A group of developmental disorders that impair social interaction and communication.
- Intellectual disability: A condition characterized by significant limitations in cognitive abilities.
Did you Know ?
Mutations in the spanxn2 gene account for approximately 5% of all cases of HSP2, making it one of the most common genetic causes of this condition.
