| 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
|
|---|
| Pathway |
| hsa00860 | Porphyrin and chlorophyll metabolism |
|
|---|
| 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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