SLC40A1

SLC40A1 is a gene that provides instructions for making a protein called ferroportin. This protein is the only known cellular iron exporter in mammals and is crucial for the regulation of systemic iron homeostasis. Mutations in the SLC40A1 gene can lead to conditions such as hemochromatosis type 4, also known as ferroportin disease.

Function

The SLC40A1 gene encodes the protein ferroportin, which is located on the surface of cells where it exports iron. This protein is found in high amounts in cells that store or transport iron, such as macrophages, hepatocytes, and cells lining the intestine and placenta. By controlling the amount of iron that is released into the bloodstream, ferroportin helps maintain overall iron balance in the body.

Clinical significance

Mutations in the SLC40A1 gene can cause hemochromatosis type 4, a disorder characterized by an abnormal accumulation of iron in the body. This condition can lead to organ damage, particularly in the liver and heart, and other serious complications. There are two types of hemochromatosis type 4, known as classic and non-classic. The classic type is associated with anemia, while the non-classic type is not.

See also

• Iron metabolism
• Hemochromatosis
• SLC family

External links

• SLC40A1 at Genetics Home Reference
• SLC40A1 at NCBI Gene

SLC40A1 Resources
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