TFR2
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
transferrin receptor 2
Normal Function
Health Conditions Related to Genetic Changes
Hereditary hemochromatosis
About 50 mutations in the TFR2 gene cause type 3 hemochromatosis, a form of hereditary hemochromatosis that begins in early adulthood, usually before age 30. Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron accumulates in, and eventually damages, the body's tissues and organs.
Some TFR2 gene mutations prevent the production of transferrin receptor 2. Other mutations result in proteins that have an incorrect sequence of protein building blocks (amino acids) or proteins that are too short to function normally. These mutations prevent the protein from binding to transferrin, blocking iron from entering hepatocytes.
Mutations in the TFR2 gene are also thought to contribute to low levels of hepcidin in the body, which results in too much iron being absorbed from the diet. When this occurs, the excess iron is stored in the body's tissues, especially the liver. Iron overload leads to the organ damage and other signs and symptoms of type 3 hemochromatosis.
More About This Health ConditionRelated Conditions
Hereditary hemochromatosis
Health Conditions Related to Genetic Changes
About 50 mutations in the TFR2 gene cause type 3 hemochromatosis, a form of hereditary hemochromatosis that begins in early adulthood, usually before age 30. Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron accumulates in, and eventually damages, the body's tissues and organs.
Some TFR2 gene mutations prevent the production of transferrin receptor 2. Other mutations result in proteins that have an incorrect sequence of protein building blocks (amino acids) or proteins that are too short to function normally. These mutations prevent the protein from binding to transferrin, blocking iron from entering hepatocytes.
Mutations in the TFR2 gene are also thought to contribute to low levels of hepcidin in the body, which results in too much iron being absorbed from the diet. When this occurs, the excess iron is stored in the body's tissues, especially the liver. Iron overload leads to the organ damage and other signs and symptoms of type 3 hemochromatosis.