SLC23A1
SLC23A1 is a gene that encodes for a protein known as the sodium-dependent vitamin C transporter 1 (SVCT1). This protein is a member of the solute carrier family 23, which are responsible for the transport of a variety of molecules across cellular membranes. SVCT1 is specifically involved in the transport of vitamin C (ascorbic acid) into cells.
Function[edit | edit source]
The SLC23A1 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 SVCT1 protein ensures that cells have a sufficient supply of vitamin C to carry out these important functions.
Clinical significance[edit | edit source]
Mutations in the SLC23A1 gene can lead to a condition known as hypovitaminosis C, which is characterized by low levels of vitamin C in the body. This can result in a variety of health problems, including scurvy, a disease that causes swollen and bleeding gums, joint pain, and anemia.
See also[edit | edit source]
References[edit | edit source]
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