The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.
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Protein Aliases: Ferrochelatase, mitochondrial; Heme synthase; heme synthetase; Protoheme ferro-lyase; protoporphyria
Gene Aliases: AI894116; EPP; FCE; fch; Fcl; FECH
UniProt ID: (Human) P22830