SLC40A1 gene

The official name of SLC40A1 gene is “solute carrier family 40 (iron-regulated transporter), member 1".SLC40A1 gene belongs to a family of genes called SLC. SLC40A1 gene provides instructions for making a protein called ferroportin 1. This protein plays an essential role in the regulation of iron levels in the body. Iron from the diet is absorbed through the walls of the small intestine. Ferroportin 1 then transports iron from the small intestine into the bloodstream. In the bloodstream, the iron binds to another transport protein called transferrin that carries it to the tissues and organs of the body. Ferroportin 1 also transports iron out of specialized immune system cells (called reticuloendothelial cells) that are found in the liver, spleen, and bone marrow. The iron balance in the body is regulated by the amount of iron stored and released from these cells.



Location:

SLC40A1 is present in human chromosome 2 and its coded from region190,133,560 to 190,153,857 Complement base pairs with 8 exons, the cytogenetic location 2q32

Disease

Mutations in SLC40A1 gene causes hemochromatosis Approximately 15 mutations SLC40A1 have been identified which causes type 4 hemochromatosis, Almost all of these mutations change a single protein building block (amino acid) in ferroportin 1. Abnormal versions of ferroportin 1 do not permit the normal transport and release of iron from intestinal or reticuloendothelial cells. As a result, the regulation of iron levels in the body is impaired and iron overload results. One mutated copy of this gene in each cell is sufficient to cause type 4 hemochromatosis, sometimes referred to as ferroportin disease.