Haematopodin

Haematopodin

Haematopodin is a protein that in humans is encoded by the HEPH gene. It is a multi-copper oxidase involved in iron metabolism in the body.

Function

Haematopodin, also known as Hephaestin, is a transmembrane protein that is similar to ceruloplasmin, a serum multi-copper oxidase. It is believed to play a crucial role in iron metabolism by assisting in the release of iron from cells to plasma. It is primarily expressed in the small intestine, particularly in the duodenum, where dietary iron absorption takes place.

Structure

The HEPH gene encodes a protein of 1120 amino acids. The protein has six copper-binding sites and a transmembrane domain, suggesting that it functions as a membrane-bound enzyme. The protein is glycosylated and has a molecular weight of approximately 130 kDa.

Clinical Significance

Mutations in the HEPH gene have been associated with several disorders related to iron metabolism, including iron deficiency anemia and iron overload. In particular, a mutation in this gene has been identified in patients with an autosomal recessive form of hemochromatosis, a condition characterized by excessive iron absorption.

See Also

• Iron metabolism
• Ceruloplasmin
• Hemochromatosis