Entry |
|
Name |
UROS deficiency in heme biosynthesis
|
Definition |
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS* |
Expanded |
C00037 -- (211,212) >> 210 >> 3145 >> 7390v1 |
Class |
|
Type |
Variant
|
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 |
|
LinkDB |
|