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Browse result for Congenital erythropoietic porphyria

※ introduction

    The porphyrias are diseases caused by defects in heme synthesis, 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.

Reference
OMIM: Congenital erythropoietic porphyria



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04047P107467390
UROS
Uroporphyrinogen-III synthase
Homo sapiens