What type of gene is HFE?

What type of gene is HFE?

HFE Hemochromatosis (Type 1) 1. The HFE gene is a major histocompatibility complex (MHC) class I–like gene and is located on the short arm of chromosome 6 telomeric to the A3 MHC class 1 histocompatibility locus. Homozygous mutation of C282Y accounts for approximately 85% to 90% of individuals with HH.

What is S65C mutation?

A third mutation in the HFE gene, S65C, was found to be enriched on chromosomes from French HH patients compared with healthy controls. 12. However, its clinical importance remains controversial as the S65C variant was found not to be associated with increased Tf saturation in healthy Canadian blood donors.

What does HFE gene stand for?

What is the HFE Gene? The naming of the hemochromatosis gene “HFE” stands for “High Iron.” Fe is iron’s chemical symbol, so when you put the H with the FE… you get the HFE gene. The HFE gene makes a protein involved in iron absorption and causes the body to take in excess iron from food and water.

What happens when the HFE gene is mutated?

Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs.

Where is the HFE gene expressed?

HFE protein has been detected in various cell types. It is expressed throughout the gastrointestinal tract as well as in macrophages and monocytes [4], [5]. In the human liver, HFE was shown to be present on Kupffer cells and endothelium [6].

What protein does HFE?

Function. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate circulating iron uptake by regulating the interaction of the transferrin receptor with transferrin.

Which HFE genotype is most common in patients with hereditary hemochromatosis HH )?

Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by a defective iron absorption. C282Y is the most frequent HFE gene mutation causing HH in Northern European populations and their descendants.

Can hemochromatosis make you gain weight?

Hemochromatosis may cause belly pain, weakness, tiredness, and weight loss. It also can scar the liver, cause joint pain, and darken the skin. In late stages, it can damage the heart and joints, and can cause diabetes.

What foods to avoid if you have hemochromatosis?

6 foods to avoid in a hemochromatosis diet

• Vitamin C-rich foods. Dr.
• Red meat in excess. Nutritionist Best says animal sources of protein, like beef, contain heme iron, which is more easily absorbed by the body.
• Raw fish and shellfish.
• Alcoholic beverages.
• Sugar.
• Iron-fortified foods.

Where is HFE found?

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.

Where is HFE protein expressed?

Can hemochromatosis affect your eyes?

Clinical Relevance. Ocular manifestations of hemochromatosis may cause visual changes such as diminished visual acuity due to pathological changes in the cornea and retina.