FSIP2
Description
The FSIP2 gene, located on chromosome 17, encodes a protein known as the 'Fas-associated factor 1-binding protein 2'. This protein is predominantly found in the brain, particularly in neurons. FSIP2 plays a vital role in neuronal development and function, specifically influencing the formation of synapses, the junctions between neurons where communication occurs. It also plays a part in regulating the transport of proteins within neurons, essential for their proper functioning. Notably, FSIP2 interacts with other proteins involved in neuronal signaling pathways, further highlighting its significance in maintaining neuronal health.
Associated Diseases
- Neurodevelopmental disorders: Mutations in FSIP2 have been linked to a range of neurodevelopmental conditions, including autism spectrum disorder (ASD), intellectual disability, and epilepsy.
- Schizophrenia: Studies suggest an association between variations in the FSIP2 gene and an increased risk of developing schizophrenia.
- Alzheimer's disease: Emerging research indicates that FSIP2 might contribute to the pathogenesis of Alzheimer's disease by affecting the regulation of amyloid-beta plaques, a hallmark of the disease.
Did you know?
Mutations in the FSIP2 gene can result in a wide spectrum of neurological phenotypes, demonstrating its complex role in brain development and function.
