SLC6A18
Exploring the SLC6A18 Gene: A Comprehensive Guide
Description
The SLC6A18 gene, also known as the solute carrier family 6 member 18 gene, plays a crucial role in regulating the transport of neurotransmitters, particularly dopamine, into neuronal cells. This gene encodes a protein that functions as a dopamine transporter, ensuring the proper balance of dopamine in the brain. By controlling the reuptake of dopamine into presynaptic neurons, SLC6A18 significantly influences dopamine signaling and neurotransmission in various brain regions.
Associated Diseases
Mutations or variations in the SLC6A18 gene have been associated with several neurological and psychiatric disorders, including:
- Attention Deficit Hyperactivity Disorder (ADHD): Studies have found that genetic variations in SLC6A18 are linked to an increased risk of developing ADHD.
- Autism Spectrum Disorder (ASD): Alterations in SLC6A18 expression or function have been implicated in the pathogenesis of ASD.
- Schizophrenia: Abnormal SLC6A18 regulation has been associated with the development of schizophrenia.
- Parkinson‘s Disease: Mutations in SLC6A18 can lead to a significant reduction in dopamine transport and contribute to the motor symptoms observed in Parkinson‘s disease.
Did you Know ?
The SLC6A18 gene is located on chromosome 10q22.1 and contains 15 exons. Its protein product is 620 amino acids long and has a molecular weight of approximately 69 kDa.
