PPOX Chromosome 1
Protoporphyrinogen oxidase
Upload your DNA to see your personal genotypes for variants in PPOX.
What This Gene Does
This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000143224
Associated Conditions (15)
Inborn genetic diseases
Variegate porphyria
childhood-onset
PPOX-related disorder
Abnormal blistering of the skin
Porphyrinuria
Abdominal colic
Abnormality of metabolism/homeostasis
See cases
Cervical cancer
Constipation
Migraine
Abnormal urinary color
Hepatocellular carcinoma
Cardiomyopathy
Key Variants
RS1001703993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114493458
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS12735723
Conflicting classifications of pathogenicity
Variegate porphyria, childhood-onset, PPOX-related disorder
Health Risk
RS145286580
Conflicting classifications of pathogenicity
Variegate porphyria, childhood-onset, Inborn genetic diseases
Health Risk
RS148045152
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS148730591
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS1661206662
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS200192089
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS201155115
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS374936130
Conflicting classifications of pathogenicity
Variegate porphyria, childhood-onset, Variegate porphyria
Health Risk
RS751511778
Conflicting classifications of pathogenicity
Variegate porphyria, Variegate porphyria
Health Risk
RS767225561
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2525361506 | Health Risk | Pathogenic | — |
| RS28936676 | Health Risk | Pathogenic | Variegate porphyria, childhood-onset, Variegate porphyria |
| RS28936677 | Health Risk | Pathogenic | Variegate porphyria, childhood-onset, Variegate porphyria |
| RS762280759 | Health Risk | Pathogenic | — |
| RS767419411 | Health Risk | Pathogenic | Variegate porphyria, childhood-onset, Variegate porphyria |
| RS771784041 | Health Risk | Pathogenic | — |
| RS774663053 | Health Risk | Pathogenic | — |
| RS900431442 | Health Risk | Pathogenic | Variegate porphyria, childhood-onset, Variegate porphyria |
| RS956668146 | Health Risk | Pathogenic | — |
| RS121918325 | Health Risk | Pathogenic/Likely pathogenic | Variegate porphyria, childhood-onset, Variegate porphyria |
| RS2525306943 | Health Risk | Pathogenic/Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2525361367 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS41270025 | Health Risk | Pathogenic/Likely pathogenic | Variegate porphyria, See cases, Variegate porphyria |
| RS754313121 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS766602053 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS786204784 | Health Risk | Pathogenic/Likely pathogenic | Variegate porphyria, Variegate porphyria |