FECH

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. [provided by RefSeq]

ferrochelatase (protoporphyria)

Catalyzes the ferrous insertion into protoporphyrin IX.

Cellular response to dexamethasone stimulus Source: Ensembl
Generation of precursor metabolites and energy Source: ProtInc
Heme biosynthetic process Source: UniProtKB
Protoporphyrinogen IX metabolic process Source: BHF-UCL
Response to arsenic-containing substance Source: Ensembl
Response to drug Source: Ensembl
Response to ethanol Source: Ensembl
Response to insecticide Source: Ensembl
Response to lead ion Source: Ensembl
Response to light stimulus Source: ProtInc
Response to methylmercury Source: Ensembl
Response to platinum ion Source: Ensembl

Mitochondrion inner membrane

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.