UROS
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | UROS |
| GeneCards | UROS |
| Diseases | UROS |
| wikipedia | UROS |
| UROS | |
| gopubmed | UROS |
| EVS | UROS |
| HEFalMp | UROS |
| MyGene2 | UROS |
| 23andMe | UROS |
| # SNPs | 22 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs121908012 | 7 | 125,815,061 | |
| rs121908013 | 0 | 125,815,120 | |
| rs121908014 | 0 | 125,788,983 | |
| rs121908015 | 0 | 125,816,490 | |
| rs121908016 | 0 | 125,815,034 | |
| rs121908017 | 0 | 125,794,978 | |
| rs121908018 | 0 | 125,815,035 | |
| rs121908020 | 0 | 125,788,993 | |
| rs121908021 | 0 | 125,788,923 | |
| rs28941774 | 3.5 | 125,815,081 | |
| rs28941775 | 3.5 | 125,815,094 | |
| rs373864821 | 0 | 125,816,436 | |
| rs397515348 | 0 | 125,816,702 | |
| rs397515349 | 0 | 125,816,708 | |
| rs397515350 | 0 | 125,816,718 | |
| rs397515351 | 0 | 125,816,722 | |
| rs397515527 | 0 | 125,816,185 | |
| rs397515528 | 0 | 125,812,222 | |
| rs4385801 | 0 | 125,823,221 | |
| rs796051859 | 0 | 125,798,142 | |
| rs869320669 | 0 | 125,823,225 | |
| rs869320670 | 0 | 125,823,205 |
The UROS gene on chromosome 10 provides instructions for making an enzyme known as uroporphyrinogen III synthase. More than 35 mutations in the UROS gene have been found to cause a form of porphyria known as congenital erythropoietic porphyria.
The most common UROS gene mutation, rs121908012, found in about one-third of all cases of congenital erythropoietic porphyria, replaces the amino acid cysteine with the amino acid arginine at position 73 (written as Cys73Arg or C73R).GHR
