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 describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload.

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.

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 …

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.

Dec 15, 2015 · 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.

A working model describes the defect in the HFE gene, where a mutation puts the intestinal absorption of iron into overdrive. Normally, HFE facilitates the binding of transferrin, which is iron's carrier protein in the blood.

Most (approximately 85%) patients with HH have mutations in the HFE gene, and HFE -related HH is one of the most common inherited disorders among whites, with a frequency of about 1 in 250. Two independent mutations of the HFE gene are principally responsible for HFE -related HH.

Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions.