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FLASH GENE
Symbol UROS contributors: SGE/npt - updated : 09-03-2010
HGNC name uroporphyrinogen III synthase
HGNC id 12592
ASSOCIATED DISORDERS
corresponding disease(s) CEP
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
Heterozygous mice for P248Q mutation appeared normal, but homozygous mutant mice were hypotrophic at birth and produced red urine and showed erythrodontia in the first weeks of life. Homozygous mutant mice also showed photosensitivity and hepatosplenomegaly, and uroporphyrin accumulated in urine (Ged 2006)