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B1AJX8(HEPH) is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Three transcript variants encoding different isoforms have been described for this gene. The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Two transcript variants encoding different isoforms have been described for this gene.
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Protein Aliases: haphaestin; Hephaestin; Hp; sex linked anemia
Gene Aliases: C130006F04Rik; CPL; HEPH; KIAA0698; mKIAA0698; sla; UNQ2562/PRO6242
UniProt ID: (Human) Q9BQS7, (Mouse) Q9Z0Z4
Entrez Gene ID: (Human) 9843, (Mouse) 15203
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