HFE (gene)

The HFE gene is a gene in humans that is located on the short arm of chromosome 6 at position 21.3. The gene is associated with the regulation of iron absorption in the body. Mutations in the HFE gene can lead to conditions such as Hereditary hemochromatosis, a disorder that causes the body to absorb too much iron from the diet.

Function

The HFE gene provides instructions for making a protein that is located on the surface of cells, where it interacts with other proteins to play a role in iron metabolism. The HFE protein partners with a protein called transferrin receptor to detect the amount of iron in the body and regulate its absorption in the intestines.

Clinical significance

Mutations in the HFE gene can lead to hereditary hemochromatosis, a condition characterized by iron overload. The most common mutation in the HFE gene is known as C282Y. This mutation changes a single amino acid in the HFE protein, which disrupts its ability to regulate iron absorption, leading to an accumulation of iron in the body.

Genetics

The HFE gene is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

See also

• Iron metabolism
• Hereditary hemochromatosis
• Transferrin receptor

External links

• HFE gene on the US National Library of Medicine website
• HFE gene on the National Center for Biotechnology Information website