FECH Human Recombinant Protein

The protein encoded by this gene 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.[provided by RefSeq, May 2010]

FECH: Catalyzes the ferrous insertion into protoporphyrin IX. Defects in FECH are the cause of erythropoietic protoporphyria (EPP). 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. EPP is a form of porphyria 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. Belongs to the ferrochelatase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; EC 4.99.1.1; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Lyase

Chromosomal Location of Human Ortholog: 18q21.3

Cellular Component: mitochondrial matrix; mitochondrial inner membrane

Molecular Function: 2 iron, 2 sulfur cluster binding; protein binding; iron-responsive element binding; ferrochelatase activity; ferrous iron binding; heme binding

Biological Process: response to drug; response to light stimulus; cholesterol metabolic process; generation of precursor metabolites and energy; response to arsenic; response to insecticide; detection of UV; iron ion homeostasis; response to ethanol; regulation of gene expression; protoporphyrinogen IX metabolic process; regulation of hemoglobin biosynthetic process; porphyrin metabolic process; response to lead ion; response to methylmercury; erythrocyte differentiation; heme biosynthetic process

Disease: Protoporphyria, Erythropoietic