Gene: PPOX

Alternate names for this Gene: PPO|V290M|VP

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.3

Description of this Gene: protoporphyrinogen oxidase

Type of Gene: protein-coding

rs121918323 in PPOX gene and Variegate Porphyria PMID 11286631 2001 Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.

PMID 18570668 2008 Genetic and biochemical studies in Argentinean patients with variegate porphyria.

PMID 19320019 2009 Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

PMID 8673113 1996 A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.

PMID 11474578 2001 Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

PMID 16922948 2006 Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

PMID 11350188 2001 Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.

PMID 24073655 2013 Homozygous variegate porphyria presenting with developmental and language delay in childhood.

PMID 23430901 2012 Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.

PMID 16433813 2006 A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.

PMID 12380696 2003 Variegate porphyria in Western Australian Aboriginal patients.

PMID 23467411 2013 Quantitative structural insight into human variegate porphyria disease.

PMID 11102990 2000 Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

PMID 12655566 2003 Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.

PMID 11348478 2001 A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

PMID 9541112 1998 Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

PMID 12859407 2003 Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

PMID 10870850 2000 Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

PMID 11074242 2000 Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.

PMID 8817334 1996 Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

PMID 11350188 2001 Here we investigate the molecular basis of variegate porphyria in four non-R59W South African families.

PMID 12380696 2003 The R59W founder mutation responsible for over 90% of variegate porphyria in South Africa was excluded.

PMID 8817334 1996 Mutation R59W, identified in the majority of South African VP families, was shown to create a Styl restriction site, while mutation R168C would abolish a Dsal restriction site in genomic DNA of affected individuals.

PMID 8673113 1996 The R59W mutation was present in 43 of 45 patients with VP from 26 of 27 South African families investigated, but not in 34 unaffected relatives or 9 unrelated British patients with PPO deficiency.

PMID 8817334 1996 Mutation R59W, identified in the majority of South African VP families, was shown to create a Styl restriction site, while mutation R168C would abolish a Dsal restriction site in genomic DNA of affected individuals.

PMID 10486317 1999 Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

PMID 1946837 1991 Is the VBR still a useful measure of changes in the cerebral ventricles?

PMID 11298551 2001 Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.

PMID 11102990 2000 Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

rs2301287 in PPOX gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.