uroporphyrinogen I synthetase

uroporphyrinogen I synthetase
An enzyme of haem biosynthesis that is defective in the inherited (autosomal dominant) disease, acute intermittent porphyria. UP I is isomerised to UP III by UP III synthetase, defective in the autosomal recessive disease, congenital erythropoietic porphyria.

Dictionary of molecular biology. 2004.

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