HEPHL1
HEPHL1: An Essential Gene for Liver Health and Beyond
Description
HEPHL1 is a gene that encodes a protein called Hephaestin. This protein is a multicopper ferroxidase that plays a crucial role in iron metabolism. Hephaestin is located on the surface of hepatocytes, the main cells of the liver, and is responsible for oxidizing ferrous iron (Fe2+) to ferric iron (Fe3+). This process enables iron to bind to transferrin, a protein that transports iron throughout the body.
HEPHL1 is essential for maintaining iron homeostasis and preventing iron overload. Iron is a vital nutrient required for various physiological processes, including oxygen transport, DNA synthesis, and energy production. However, excess iron can accumulate in tissues and cause oxidative damage and cell death. HEPHL1 helps regulate iron levels by facilitating its release from hepatocytes into the bloodstream.
Associated Diseases
Mutations in the HEPHL1 gene can lead to several diseases, including:
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Hereditary hemochromatosis type 1 (HFE1): A genetic disorder characterized by excessive iron accumulation in the liver and other organs. HFE1 is caused by mutations in the HFE gene, which encodes a protein that regulates iron absorption. These mutations lead to increased iron absorption and overexpression of HEPHL1, resulting in iron overload.
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Hepatocellular carcinoma (HCC): The most common type of liver cancer. Research has suggested that mutations in HEPHL1 may be associated with the development of HCC, particularly in patients with chronic hepatitis C infection.
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Iron-refractory iron deficiency anemia (IRIDA): A rare genetic disorder characterized by severe iron deficiency despite adequate oral iron intake. Mutations in HEPHL1 can impair iron release from hepatocytes, leading to iron deficiency and ineffective erythropoiesis.
Did you Know ?
Approximately 1 in 300 people worldwide carry a mutation in the HEPHL1 gene. While most carriers do not develop any health problems, they are at an increased risk of iron overload and associated complications.
