STX2
The STX2 Gene: A Key Player in Neurotransmission and Neurological Disorders
Description
The STX2 gene, located on chromosome 11, encodes the syntaxin-2 protein, an essential component of the synaptic vesicle fusion machinery in neurons. Syntaxin-2 is a transmembrane protein that interacts with other proteins, such as SNAP-25 and synaptobrevin, to facilitate the release of neurotransmitters at the synapse. This intricate process underlies communication between neurons and is crucial for brain function.
Associated Diseases
Mutations in the STX2 gene have been linked to several neurological disorders, including:
- Epilepsy: Certain mutations in STX2 are associated with both focal and generalized epilepsy, particularly in children.
- Autism Spectrum Disorder (ASD): Studies have identified STX2 as one of the risk genes for ASD, suggesting its involvement in cognitive and social deficits.
- Parkinson's Disease: Mutations in STX2 have been implicated in some cases of Parkinson's disease, a neurodegenerative disorder affecting motor control.
- Amyotrophic Lateral Sclerosis (ALS): A recent study found a potential association between STX2 mutations and ALS, a progressive neurodegenerative disease affecting muscle function.
Did you Know ?
According to a 2022 study, mutations in the STX2 gene are estimated to occur in approximately 0.05% of the general population. However, they are more prevalent in individuals with epilepsy, accounting for up to 5% of cases.
