Ferrochelatase (FECH)

EPP; FCE; Protoheme Ferrolyase; Protoporphyria; Heme synthase; Protoheme ferro-lyase

SPN	U360
HGNC	3647
MGI	95513
PubMed	7592569
RGD	1307556
UniProt	P22830
Wiki	Ferrochelatase

Ferrochelatase (FECH, protoheme ferrolyase) is an enzyme that catalyses the terminal (eighth) step in the biosynthesis of heme, converting protoporphyrin IX into heme. It catalyses reaction: protoporphyrin + Fe⁺⁺ <=> protoheme + 2 H⁺. A ferrochelatase enzyme consists of 497 amino acid residues with a m.w. of 55.4 kDa.

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. Defects in ferrochelatase are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene.

Reference

"Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase."
Biochem. Biophys. Res. Commun. 173:748-755(1990) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene."
J. Biol. Chem. 269:30789-30797(1994) [PubMed] [Europe PMC] [Abstract]

"Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases."
J. Biol. Chem. 269:390-395(1994) [PubMed] [Europe PMC] [Abstract]

"Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster."
Biochemistry 35:16222-16229(1996) [PubMed] [Europe PMC] [Abstract]

"Evidence that the fourth ligand to the 2Fe-2S cluster in animal ferrochelatase is a cysteine. Characterization of the enzyme from Drosophila melanogaster."
J. Biol. Chem. 273:22311-22316(1998) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis."
Nat. Struct. Biol. 8:156-160(2001) [PubMed] [Europe PMC] [Abstract]

"Substrate interactions with human ferrochelatase."
Proc. Natl. Acad. Sci. U.S.A. 104:1789-1793(2007) [PubMed] [Europe PMC] [Abstract]

"Erythropoietic protoporphyria."
J. Inherit. Metab. Dis. 20:258-269(1997) [PubMed] [Europe PMC] [Abstract]

"Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene."
Biochem. Biophys. Res. Commun. 181:594-599(1991) [PubMed] [Europe PMC] [Abstract]

"A molecular defect in human protoporphyria."
Am. J. Hum. Genet. 50:1203-1210(1992) [PubMed] [Europe PMC] [Abstract]

"Recessive inheritance of erythropoietic protoporphyria with liver failure."
Lancet 343:1394-1396(1994) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria."
Br. J. Haematol. 94:191-197(1996) [PubMed] [Europe PMC] [Abstract]

"Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria."
Am. J. Hum. Genet. 62:1341-1352(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria."
J. Invest. Dermatol. 111:406-409(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria."
Blood 96:1545-1549(2000) [PubMed] [Europe PMC] [Abstract]

"New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype."
Clin. Chem. 47:1112-1113(2001) [PubMed] [Europe PMC] [Abstract]

"Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations."
J. Am. Acad. Dermatol. 46:861-866(2002) [PubMed] [Europe PMC] [Abstract]

"Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria."
J. Hum. Genet. 48:70-76(2003) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease."
J. Med. Genet. 41:E105-E105(2004) [PubMed] [Europe PMC] [Abstract]

"Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria."
Mol. Genet. Metab. 90:402-407(2007) [PubMed] [Europe PMC] [Abstract]