SLC22A1

SLC22A1 is a gene that in humans encodes the organic cation transporter 1 (OCT1) protein. This protein is a member of the solute carrier family of proteins, which are responsible for the transport of a wide variety of substances across cellular membranes.

Function

The SLC22A1 gene encodes a protein that is involved in the transport of small organic cations. These cations can include a wide variety of endogenous substances, such as hormones, neurotransmitters, and metabolites, as well as exogenous drugs and toxins. The protein is expressed primarily in the liver, where it plays a key role in the elimination of drugs and toxins from the body.

Clinical significance

Mutations in the SLC22A1 gene can lead to a variety of health problems. For example, certain mutations can result in reduced function of the OCT1 protein, which can lead to decreased drug and toxin elimination and increased susceptibility to drug toxicity. This can be particularly problematic in the context of pharmacotherapy, as it can lead to increased drug concentrations and potential drug toxicity.

In addition, certain SLC22A1 gene variants have been associated with an increased risk of developing type 2 diabetes. This is thought to be due to the role of the OCT1 protein in the transport of metformin, a drug commonly used in the treatment of type 2 diabetes.

See also

• Solute carrier family
• Organic cation transporter
• Pharmacogenomics