Human FECH
The human FECH ferrochelatase gene in Homo Sapiens is found on chromosome 18q21.3. The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrousform of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria{provided by RefSeq, May 2010}.
FECH is part of a large superfamily of Class II Chelatase. They are a family of ATP - independent monomeric of homodimeric enzymes that catalyse the insertion of metal into porphyrin rings.
FECH Superfamily Structure
This family includes protoporphyrin IX ferrochelatase (HemH), sirohydrochlorin ferrochelatase (SirB) and the cobaltochelatases, CbiK and CbiX. HemH and SirB are involved in heme and siroheme biosynthesis, respectively, while the cobaltochelatases are associated with cobalamin biosynthesis. Excluded from this family are the ATP-dependent heterotrimeric chelatases (class I) and the multifunctional homodimeric enzymes with dehydrogenase and chelatase activities (class III).
FECH is part of a large superfamily of Class II Chelatase. They are a family of ATP - independent monomeric of homodimeric enzymes that catalyse the insertion of metal into porphyrin rings.
FECH Superfamily Structure
This family includes protoporphyrin IX ferrochelatase (HemH), sirohydrochlorin ferrochelatase (SirB) and the cobaltochelatases, CbiK and CbiX. HemH and SirB are involved in heme and siroheme biosynthesis, respectively, while the cobaltochelatases are associated with cobalamin biosynthesis. Excluded from this family are the ATP-dependent heterotrimeric chelatases (class I) and the multifunctional homodimeric enzymes with dehydrogenase and chelatase activities (class III).
Orthologs
FECH is highly conserved in Opisthokonta, a large supergroup of eukaryotes metazoans and fungi. It has 99% homology with Pan troglodytes Accession NP 001033101.1, Macaca mulatta, 91% with Canis lupis, 88% with Mus musculas 87% with Bos tarus, 56% with Drosophila melanogaster and Saccharomyces cerevisiae, 51% to name a few.
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by the deficiency of ferrochelatase (FECH). EPP is usually transmitted as a pseudodominant trait. It can present as burning or itching on the skin. Without FECH an overabundance of protoporphyrin accumulates in body tissues and can be very painful. People with this condition can be hypersensitive to sunlight. There is no cure, patients can only manage their symptoms.
Interesting post. EPP sounds terrible though. Do you know if a cure is in the process of being made?
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