Human homeostatic iron regulator protein, also known as the HFE protein (H igh FE 2+), is a transmembrane protein that in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2 [5]

Jan 9, 2025 · You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these changes in your HFE gene. If you inherit two altered genes, you may develop hemochromatosis. You also can pass the altered gene on to your children.

We review HFE mapping and cloning, structure, promoters and controllers, and coding region mutations, HFE protein structure, cell and tissue expression and function, mouse Hfe knockouts and knockins, and HFE mutations in other mammals with iron overload.

May 15, 2024 · Hereditary hemochromatosis is most commonly caused by certain changes in a specific gene, called the HFE gene. If you inherit two of these genetic changes (mutations), one from each parent, you have hereditary hemochromatosis and are …

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. Learn about this gene and related health conditions.

Hereditary hemochromatosis is an autosomal recessive disorder that disrupts iron homeostasis, resulting in systemic iron overload. It is the most common inherited disorder among people of...

Apr 3, 2000 · HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells.

Mar 30, 2025 · HFE (Homeostatic Iron Regulator) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis, Type 1 and Microvascular Complications Of Diabetes 7. Among its related pathways are Insulin receptor recycling and Transport of inorganic cations/anions and amino acids/oligopeptides.

There are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 [9] and 5, [10] all caused by mutated genes. Hereditary hemochromatosis type 1 is the most frequent, and uniquely related to the HFE gene. It is most common among those of Northern European ancestry, in particular those of Celtic descent. [11]

Jan 26, 2022 · The hemochromatosis gene, known as HFE, helps regulate the body’s absorption of iron. Some people can inherit a mutation to this gene that causes their bodies to absorb too much iron.