SLC6A20
SLC6A20 is a gene that provides instructions for making a protein involved in the transport of amino acids, specifically proline and other related compounds, across cell membranes. This protein plays a crucial role in the absorption of nutrients in the intestines and the kidneys, helping to maintain proper levels of amino acids in the body.
Mutations in the SLC6A20 gene can lead to various health issues, including hyperprolinemia, a condition characterized by elevated levels of proline in the blood. Understanding the function of this gene is important for studying metabolic disorders and developing potential treatments.