SNTN
Understanding the sntn Gene: An In-Depth Exploration
Description
The sntn gene, also known as syntaxin 17, encodes a protein that plays a crucial role in the transport of vesicles within cells. Vesicles are small sacs that transport various molecules, including neurotransmitters, hormones, and proteins. Syntaxin 17 is a member of the large SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) family, which are membrane proteins essential for vesicle fusion and docking.
Associated Diseases
Mutations in the sntn gene have been linked to several neurodevelopmental disorders, including:
- Familial dyskinetic cerebral palsy (DCP1): A rare genetic disorder characterized by involuntary muscle movements, developmental delays, and intellectual disability.
- Epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS): A severe form of epilepsy in children that causes continuous seizures during sleep.
- Autism spectrum disorder (ASD): A complex neurodevelopmental disorder that affects social and communication abilities.
- Schizophrenia: A severe mental disorder that impairs cognition, behavior, and emotions.
Did you Know ?
Approximately 1 in 10,000 people is affected by familial dyskinetic cerebral palsy, which is caused by mutations in the sntn gene. DCP1 is one of the most common genetic causes of spastic cerebral palsy, a type of cerebral palsy characterized by stiffness and muscle weakness.
