title: Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
abstract: Variegate porphyria (VP) is an autosomal dominant disorder of heme synthesis caused by a partial deficiency of protoporphyrinogen oxidase (PPOX). Human cDNA encoding PPOX has been recently sequenced and the gene has been cloned, assigned to chromosome 1q23, and its exon/intron organization has been characterized. We report here the complete nucleotide sequence of the Human PPOX gene. Including 660 bp of its promotor region, the PPOX gene spans 5.5 kb. Introns vary in size from 84 bp to 507 bp. Two exonic and 3 intronic biallelic sequence variations have been characterized.
authors.affiliation: Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, Colombes, France.
authors.forename: H
authors.initials: H
authors.lastname: Puy
authors.forename: A M
authors.initials: AM
authors.lastname: Robréau
authors.forename: R
authors.initials: R
authors.lastname: Rosipal
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
authors.forename: J C
authors.initials: JC
authors.lastname: Deybach
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D018076:DNA, Complementary; D005091:Exons; D005420:Flavoproteins; D006801:Humans; D007438:Introns; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011110:Polymorphism, Genetic; D050768:Protoporphyrinogen Oxidase
chemical_list: D018076:DNA, Complementary; D005420:Flavoproteins; D024101:Mitochondrial Proteins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase