OMIA 000836-9031 : Protoporphyria in Gallus gallus

In other species: cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 177000 (trait) , 612386 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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.


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1995 Shiozawa, M., Miyazawa, T., Koeda, T., Takahashi, M., Fujiwara, H. :
Protoporphyric disorder in livers of broiler chickens Journal of Veterinary Medical Science 57:549-551, 1995. Pubmed reference: 7548418.
1982 Shoffner, R.N., Shuman, R., Otis, J.S., Bitgood, J.J., Garwood, V., Lowe, P. :
The effect of a protoporphyrin mutant on some economic traits of the chicken Poultry Science 61:817-820, 1982.

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  • Created by Frank Nicholas on 06 Sep 2005