Entity Details

Primary name PPOX
Entity type gene
Source Source Link

Details

PrimaryID5498
RefseqGeneNG_012877
SymbolPPOX
Nameprotoporphyrinogen oxidase
Chromosome1
Location1q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPPOX_HUMAN

GO terms

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GOName
GO:0004729 oxygen-dependent protoporphyrinogen oxidase activity
GO:0005758 mitochondrial intermembrane space
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0016491 oxidoreductase activity
GO:0031304 intrinsic component of mitochondrial inner membrane
GO:0031305 integral component of mitochondrial inner membrane
GO:0031966 mitochondrial membrane
GO:0042493 response to drug
GO:0050660 flavin adenine dinucleotide binding

Diseases

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Disease IDSourceNameDescription
176200 OMIMVariegate porphyria (VP)A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. The disease is caused by variants affecting the gene represented in this entry. Mutations leading to severe PPOX deficiency cause the rare homozygous variant form of VP. Missense mutations that preserve 10%-25% of wild-type activity may not cause clinically overt VP in heterozygotes (PubMed:9811936). Mutations with intermediate effect on catalytic activity may cause VP, but with a low clinical penetrance (PubMed:10486317).