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Description

"Ferrochelatase, mitochondrial (UniProt: P22830, also known as EC: 4.99.1.1, Heme synthase, Protoheme ferro-lyase) is encoded by the FECH gene (Gene ID: 2235) in human. Ferrochelatase catalyzes the terminal reaction of the heme biosynthetic pathway in all cells. It catalyzes the insertion of ferrous iron into protoporphyrin IX, yielding heme. In eukaryotic cells, it is located in the inner mitochondrial membrane with its active site facing the mitochondrial matrix. Human ferrochelatase is a homodimer with each subunit composed of five regions: a mitochondrial localization sequence, the N terminal domain, two folded domains, and a C terminal extension. The active pocket of ferrochelatase consists of two hydrophobic ""lips"" and a hydrophilic interior. The hydrophobic lips face the inner mitochondrial membrane and facilitate the passage of the poorly soluble protoporphyrin IX substrate and the heme product via the membrane. Reduced levels of ferrochelatase activity are observed in patients with protoporphyria. Point-mutations in the FECH gene are reported to be associated with certain cases of erythropoietic protoporphyria."