Human SLC40A1 Knockout Cell Line-HEK293

The SLC40A1 gene, also known as solute carrier family 40 member 1, encodes a protein that is essential for iron metabolism in humans and various other organisms. The gene is specifically responsible for the production of ferroportin, a transmembrane protein that is an important iron exporter in the body. Ferroportin facilitates the transport of iron across cell membranes, thereby ensuring that iron absorbed from the diet is effectively distributed throughout the body. Hepcidin binds to ferroportin and induces its internalization and degradation, thereby controlling the amount of iron released into the blood. This interaction ensures that whole-body iron homeostasis is maintained—when iron levels are high, hepcidin rises to reduce ferroportin activity, and when iron levels are low, hepcidin falls to increase iron export. Mutations in the SLC40A1 gene have been associated with various forms of inherited iron overload disorders, most notably a hereditary form of hemochromatosis called ferroportinopathy or type 4 hemochromatosis. More than 37 different mutations in this gene have been associated with this disease, which is characterized by the body's inability to regulate iron levels, leading to excess iron accumulation in tissues and organs. Individuals with ferroportinopathy typically develop symptoms in adulthood, and the disease is inherited in an autosomal dominant pattern.