The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease).
hydroxymethylbilane hydrolyase; Hydroxymethylbilane hydrolyase [cyclizing]; UROIIIS; Uroporphyrinogen-III cosynthase; Uroporphyrinogen-III synthase
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