SLC22A20
Understanding the SLC22A20 Gene: A Comprehensive Guide
Description
The SLC22A20 gene, also known as the organic cation transporter 1 (OCT1), plays a pivotal role in the transport of organic cations, including drugs, toxins, and neurotransmitters, across cell membranes. Located on chromosome 6q24.1, it belongs to the solute carrier family 22 (SLC22) and is expressed in various tissues, primarily in the liver, kidney, and brain.
Associated Diseases
Mutations in the SLC22A20 gene have been associated with several inherited disorders, including:
- Renal Fanconi Syndrome: A rare kidney disorder characterized by impaired reabsorption of essential nutrients, leading to excessive urinary excretion and electrolyte imbalances.
- Hypermethioninemia: An inherited metabolic disorder resulting from a deficiency in the enzyme methionine adenosyltransferase (MAT). This condition can lead to intellectual disability and liver damage.
- Neonatal Intrahepatic Cholestasis: A liver disease in newborns characterized by impaired bile flow, causing jaundice and liver damage.
Did you Know ?
Studies have shown that variations in the SLC22A20 gene may influence the response to certain drugs, particularly those used for cancer and antiviral treatment. For example, certain variants have been associated with increased drug resistance and reduced treatment efficacy.
