機能Catalyzes the ferrous insertion into protoporphyrin IX.
パスウェイPorphyrin metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1.
関連疾患Erythropoietic protoporphyria (EPP) [MIM:177000]: A form of porphyria. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.