HFE (gene)

From WikiMD's Wellnesspedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]


External links[edit | edit source]

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

Find a healthcare provider anywhere in the world quickly and easily!

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Prab R. Tumpati, MD