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FECH / Ferrochelatase 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.
Gene Name: | ferrochelatase |
Synonyms: | FECH, FCE, Heme synthase, EPP, Heme synthetase, Protoheme ferro-lyase, Protoporphyria, Ferrochelatase, Ferrochelatase, mitochondrial |
Target Sequences: | NM_000140 NP_000131.2 P22830 |
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