HEPH

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Description

The HEPH (hephaestin) is a protein-coding gene located on chromosome X.

Hephaestin (HEPH) plays a crucial role in iron metabolism, acting as a ferroxidase to convert ferrous iron (Fe2+) to ferric iron (Fe3+). It is also implicated in copper transport and homeostasis. HEPH may facilitate iron efflux in conjunction with ferroportin 1, contributing to overall iron homeostasis.

HEPH is also known as CPL.

Associated Diseases

• alpha thalassemia-intellectual disability syndrome type 1
• hemoglobin E-beta-thalassemia syndrome
• hemolytic anemia due to adenylate kinase deficiency
• alpha-thalassemia-myelodysplastic syndrome
• delta-beta-thalassemia
• hemoglobin D disease
• Heinz body anemia
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• hemoglobin C-beta-thalassemia syndrome
• microcytic anemia with liver iron overload
• X-linked sideroblastic anemia 1
• dominant beta-thalassemia
• hemoglobin E disease
• beta-thalassemia-X-linked thrombocytopenia syndrome
• hemochromatosis type 5