STX1A
STX1A Gene: A Comprehensive Overview
Description
The STX1A gene, located on chromosome 20q13.12, encodes the syntaxin-1A protein. Syntaxin-1A is a member of the syntaxin family of proteins, which play a crucial role in the intracellular trafficking of vesicles within cells. It is specifically involved in the docking and fusion of synaptic vesicles with the presynaptic membrane, facilitating the release of neurotransmitters at neuronal synapses.
Associated Diseases
Mutations in the STX1A gene have been linked to a range of neurological disorders, including:
- Epilepsy: Mutations in STX1A are the most common genetic cause of familial generalized epilepsy with febrile seizures plus (GEFS+).
- Autism spectrum disorder (ASD): Some mutations in STX1A have been associated with increased risk of ASD.
- Schizophrenia: Rare mutations in STX1A have been implicated in the development of schizophrenia.
- Parkinson's disease: Mutations in STX1A have been associated with an increased risk of developing Parkinson's disease, particularly early-onset forms.
- Amyotrophic lateral sclerosis (ALS): Certain mutations in STX1A have been linked to familial forms of ALS.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide have a mutation in the STX1A gene. However, the frequency of mutations varies significantly among different populations.
