SLC23A2
SLC23A2 is a gene that encodes a protein known as Sodium-dependent Vitamin C Transporter 2 (SVCT2). This protein is a member of the solute carrier family 23, which are responsible for the transport of certain substances across the cell membrane. SVCT2 is specifically involved in the transport of vitamin C (ascorbic acid) into cells.
Function[edit | edit source]
The SLC23A2 gene provides instructions for making a protein that transports vitamin C into cells. Vitamin C is an essential nutrient that plays a critical role in many biological processes, including the synthesis of collagen, a protein that provides structure and strength to tissues and organs. The protein produced from the SLC23A2 gene is found in nearly all cell types and tissues in the body, but it is most abundant in the brain and other parts of the nervous system.
Clinical significance[edit | edit source]
Mutations in the SLC23A2 gene have been associated with certain medical conditions. For example, some studies have suggested a link between variations in this gene and an increased risk of gout, a painful form of arthritis caused by high levels of uric acid in the blood. Other research has indicated that SLC23A2 may be involved in the development of cancer, particularly cancers of the blood, such as leukemia.
See also[edit | edit source]
References[edit | edit source]
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