Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | UROS | contributors: SGE/npt - updated : 09-03-2010 |
HGNC name | uroporphyrinogen III synthase |
HGNC id | 12592 |
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ASSOCIATED DISORDERS |
corresponding disease(s) | CEP |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
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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) |