HEPH
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
