OMIA:000836-9031 : Protoporphyria in Gallus gallus (chicken)
In other species: taurine cattle
Categories: Integument (skin) phene
Links to MONDO diseases:
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
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.|
- Created by Frank Nicholas on 06 Sep 2005