External Ids for HEPH Gene
Previous GeneCards Identifiers for HEPH Gene
This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for HEPH Gene
HEPH (Hephaestin) is a Protein Coding gene. Diseases associated with HEPH include Hemochromatosis, Type 1 and Iron Metabolism Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferrous iron binding. An important paralog of this gene is HEPHL1.
UniProtKB/Swiss-Prot Summary for HEPH Gene
May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1.