Article
Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.
Biochemical and biophysical research communications - 4 Sept 1996
Puy H, Robréau A M, Rosipal R, Nordmann Y, Deybach J C
Abstract excerpt
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 be...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 1
- Cloning, Molecular
- DNA, Complementary
- Exons
- Flavoproteins
- Humans
- Introns
- Mitochondrial Proteins
- Molecular Sequence Data
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Polymorphism, Genetic
- Protoporphyrinogen Oxidase