| Entry |
|
|---|
| Name |
UROS deficiency in heme biosynthesis
|
|---|
| Definition |
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS* |
|---|
| Expanded |
C00037 -- (211,212) >> 210 >> 3145 >> 7390v1 |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Pathway |
| hsa00860 | Porphyrin and chlorophyll metabolism |
|
|---|
| Disease |
| H00201 | Erythropoietic porphyria |
|
|---|
| Gene |
| 211 | ALAS1; 5'-aminolevulinate synthase 1 |
| 212 | ALAS2; 5'-aminolevulinate synthase 2 |
| 210 | ALAD; aminolevulinate dehydratase |
| 3145 | HMBS; hydroxymethylbilane synthase |
| 7390 | UROS; uroporphyrinogen III synthase |
|
|---|
| Variant |
7390v1 (UROS*) UROS deficiency
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Warner CA, Yoo HW, Roberts AG, Desnick RJ |
|---|
| Title |
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. |
|---|
| Journal |
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|---|
| LinkDB |
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