Entry |
|
Name |
CPOX deficiency in heme biosynthesis
|
Definition |
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS >> UROD >> CPOX* |
Expanded |
C00037 -- (211,212) >> 210 >> 3145 >> 7390 >> 7389 >> 1371v1 |
Class |
|
Type |
Variant
|
Disease |
|
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 |
7389 | UROD; uroporphyrinogen decarboxylase |
1371 | CPOX; coproporphyrinogen oxidase |
|
Variant |
1371v1 (CPOX*) CPOX deficiency
|
Metabolite |
|
Reference |
|
Authors |
Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH |
Title |
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. |
Journal |
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LinkDB |
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