SLC18B1
SLC18B1 Gene: A Gateway to Understanding Neurological and Developmental Disorders
Description
The SLC18B1 gene, located on chromosome 10q23.3, encodes a protein known as vesicular monoamine transporter 1 (VMAT1). VMAT1 is responsible for transporting neurotransmitters, such as dopamine, serotonin, and norepinephrine, into synaptic vesicles, where they are stored and released into the synaptic cleft during neuronal communication.
VMAT1 plays a crucial role in regulating the availability and reuptake of neurotransmitters, ensuring efficient neuronal signaling. Mutations in the SLC18B1 gene can disrupt VMAT1 function, leading to an imbalance in neurotransmitter activity and potentially resulting in various neurological and developmental disorders.
Associated Diseases
Mutations in the SLC18B1 gene have been associated with a range of neurological and developmental conditions, including:
- Parkinson's disease (PD): Mutations in SLC18B1 have been linked to early-onset PD, characterized by progressive degeneration of dopamine-producing neurons in the brain.
- Tourette syndrome (TS): SLC18B1 polymorphisms have been associated with an increased risk of TS, a neuropsychiatric disorder characterized by involuntary tics.
- Autism spectrum disorder (ASD): Several studies have identified variations in SLC18B1 as potential risk factors for ASD, a complex neurodevelopmental disorder.
- Attention deficit hyperactivity disorder (ADHD): Mutations in SLC18B1 have been linked to increased hyperactivity and inattention, symptoms commonly seen in ADHD.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are estimated to carry mutations in the SLC18B1 gene, highlighting its significant role in human health and disease.
