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Rabbit Anti-FECH/FITC Conjugated antibody
background:
Ferrochelatase catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway, and is localised in the mitochondrion. Defects in ferrochelatase are associated with protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems, or neurological complications, or occasionally both.
Function:
Catalyzes the ferrous insertion into protoporphyrin IX.
Subunit:
Homodimer.
Subcellular Location:
Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
DISEASE:
Defects in FECH are the cause of erythropoietic protoporphyria (EPP) [MIM:177000]. 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.
Similarity:
Belongs to the ferrochelatase family.
Database links:
Entrez Gene: 2235 Human
Omim: 612386 Human
SwissProt: P22830 Human
Unigene: 365365 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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