SYN1
The syn1 Gene: A Deeper Dive
Description
The syn1 gene is an essential part of the human genome, encoding the synaptic vesicle protein 1 (SV1) protein. SV1 is a crucial component of the presynaptic active zone, where neurotransmitters are released into the synaptic cleft to transmit electrical signals between neurons.
SV1 plays a vital role in regulating neurotransmitter release by controlling the fusion of synaptic vesicles with the presynaptic plasma membrane. Mutations in the syn1 gene have been linked to various neurological disorders.
Associated Diseases
- Epilepsy: Mutations in the syn1 gene have been implicated in certain types of epilepsy, including temporal lobe epilepsy and myoclonic epilepsy.
- Autism Spectrum Disorder (ASD): Some studies have suggested an association between syn1 variations and an increased risk of ASD.
- Schizophrenia: Abnormalities in SV1 expression and function have been observed in individuals with schizophrenia.
- Parkinson‘s Disease: Reduced SV1 levels have been found in patients with Parkinson‘s disease, suggesting its involvement in the disease pathology.
Did you Know ?
Approximately 1 in 10,000 individuals have an identifiable mutation in the syn1 gene that is associated with an increased risk of neurological disorders.
