CPOX Chromosome 3
Coproporphyrinogen oxidase
Upload your DNA to see your personal genotypes for variants in CPOX.
What This Gene Does
The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
Associated Conditions (8)
Hereditary coproporphyria
Coproporphyria
CPOX-related hereditary coproporphyria
CPOX-related disorder
Inborn genetic diseases
Harderoporphyria
COPROPORPHYRIA
DIGENIC
Key Variants
RS140475004
Conflicting classifications of pathogenicity
Health Risk
RS143456081
Conflicting classifications of pathogenicity
Health Risk
RS147219463
Conflicting classifications of pathogenicity
Hereditary coproporphyria, Hereditary coproporphyria
Health Risk
RS1553696573
Conflicting classifications of pathogenicity
Health Risk
RS199514514
Conflicting classifications of pathogenicity
Hereditary coproporphyria, Hereditary coproporphyria
Health Risk
RS200869871
Conflicting classifications of pathogenicity
Hereditary coproporphyria, Hereditary coproporphyria
Health Risk
RS201231166
Conflicting classifications of pathogenicity
Hereditary coproporphyria, Hereditary coproporphyria
Health Risk
RS28931603
Conflicting classifications of pathogenicity
Coproporphyria, Hereditary coproporphyria, Coproporphyria
Health Risk
RS367822877
Conflicting classifications of pathogenicity
Hereditary coproporphyria, CPOX-related hereditary coproporphyria, Hereditary coproporphyria
Health Risk
RS375923779
Conflicting classifications of pathogenicity
CPOX-related disorder, CPOX-related disorder
Health Risk
RS535432218
Conflicting classifications of pathogenicity
Hereditary coproporphyria, CPOX-related disorder, Inborn genetic diseases
Health Risk
RS572522263
Conflicting classifications of pathogenicity
Hereditary coproporphyria, Inborn genetic diseases, Hereditary coproporphyria
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140475004 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143456081 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147219463 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, Hereditary coproporphyria |
| RS1553696573 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199514514 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, Hereditary coproporphyria |
| RS200869871 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, Hereditary coproporphyria |
| RS201231166 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, Hereditary coproporphyria |
| RS28931603 | Health Risk | Conflicting classifications of pathogenicity | Coproporphyria, Hereditary coproporphyria, Coproporphyria |
| RS367822877 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, CPOX-related hereditary coproporphyria, Hereditary coproporphyria |
| RS375923779 | Health Risk | Conflicting classifications of pathogenicity | CPOX-related disorder, CPOX-related disorder |
| RS535432218 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, CPOX-related disorder, Inborn genetic diseases |
| RS572522263 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, Inborn genetic diseases, Hereditary coproporphyria |
| RS750156215 | Health Risk | Conflicting classifications of pathogenicity | Hereditary coproporphyria, Hereditary coproporphyria |
| RS770754663 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781627991 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1345582722 | Health Risk | Likely pathogenic | — |
| RS1576304776 | Health Risk | Likely pathogenic | Harderoporphyria, Hereditary coproporphyria, Harderoporphyria |
| RS2472111058 | Health Risk | Likely pathogenic | Hereditary coproporphyria, Hereditary coproporphyria |
| RS2472120866 | Health Risk | Likely pathogenic | CPOX-related hereditary coproporphyria, CPOX-related hereditary coproporphyria |
| RS121917870 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS121917871 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS121917872 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS121917873 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS121917874 | Health Risk | Pathogenic | COPROPORPHYRIA, DIGENIC, COPROPORPHYRIA |
| RS1269511347 | Health Risk | Pathogenic | — |
| RS1349358963 | Health Risk | Pathogenic | — |
| RS1559677768 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS1559679227 | Health Risk | Pathogenic | — |
| RS1576306536 | Health Risk | Pathogenic | Hereditary coproporphyria, Hereditary coproporphyria |
| RS1576306935 | Health Risk | Pathogenic | — |
| RS2107113853 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS2107113882 | Health Risk | Pathogenic | — |
| RS2107120273 | Health Risk | Pathogenic | — |
| RS2107126016 | Health Risk | Pathogenic | — |
| RS2107131377 | Health Risk | Pathogenic | — |
| RS2107137264 | Health Risk | Pathogenic | — |
| RS2107137562 | Health Risk | Pathogenic | — |
| RS2472111423 | Health Risk | Pathogenic | — |
| RS2472116620 | Health Risk | Pathogenic | — |
| RS576756431 | Health Risk | Pathogenic | — |
| RS587777271 | Health Risk | Pathogenic | Harderoporphyria, Harderoporphyria |
| RS786205053 | Health Risk | Pathogenic | Coproporphyria, CPOX-related disorder, Coproporphyria |
| RS786205054 | Health Risk | Pathogenic | Coproporphyria, Coproporphyria |
| RS121917868 | Health Risk | Pathogenic/Likely pathogenic | Harderoporphyria, Hereditary coproporphyria, CPOX-related hereditary coproporphyria |
| RS1374394802 | Health Risk | Pathogenic/Likely pathogenic | Hereditary coproporphyria, Hereditary coproporphyria |
| RS1553696121 | Health Risk | Pathogenic/Likely pathogenic | — |