OMIA 000836 : Protoporphyria

Possible human homologue (MIM number): 177000

Cross-species summary: Protoporphyrin is the last intermediate in the seven-step biosynthesis of haem from aminolaevulinic acid (ALA). The conversion of protoporphyrin to haem is catalised by the enzyme ferrochelatase. Protoporphyria is a disorder resulting from the buildup of protoporphyrin (and the other five, earlier intermediates [porphyrins] in this pathway: see the entry for porphyria, unclassified), due to the lack of this enzyme. Protoporphyrin is extremely photoreactive. Because of this, photosensitivity is the main clinical sign of this disorder.

Species in which this phene is found:
chicken (Gallus gallus)
cattle (Bos taurus)

Edit History

  • Created by Frank Nicholas on 03 May 2005