Recombinant Human Ferrochelatase, mitochondrial (FECH)

Function

Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway

Subcellular Location

Mitochondrion inner membrane (Peripheral membrane protein)

Disease Association

Protoporphyria, erythropoietic, 1 (EPP1) : An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Homodimer (PubMed:11175906, PubMed:30765471). Homotetramer (PubMed:17261801). Interacts with PGRMC1; the interaction results in decreased FECH activity (PubMed:27599036). Interacts with ABCB10 and SLC25A37; this interaction forms an oligomeric complex (By similarity). Forms a complex with ABCB7 and ABCB10, where a dimeric FECH bridges ABCB7 and ABCB10 homodimers; this complex may be required for cellular iron homeostasis, mitochondrial function and heme biosynthesis (PubMed:30765471). Interacts with ABCB7 and ABCB10 (PubMed:30765471). Interacts with MIMS2 and PPOX to form an oligomeric iron transport complex required for heme synthesis (By similarity)

Pathway

Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1

• Nakahashi Y. et al. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. — Biochem. Biophys. Res. Commun. (1990)
• Gouya L.M. et al. Ferrochelatase: complete human gene sequence, amplifiable polymorphisms and molecular study of 12 families with erythropoietic protoporphyria. (OCT-)
• Kalnine N. et al. Cloning of human full-length CDSs in BD Creator(TM) system donor vector. (OCT-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Tugores A. et al. A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene. — J. Biol. Chem. (1994)
• Di Pierro E. et al. Molecular analysis of ferrochelatase gene in erythropoietic protoporphyria. (MAR-)