Everything about Ppox totally explained
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Protoporphyrinogen oxidase, also known as
PPOX, is a human
gene.
PPOX (
protoporphyrinogen oxidase) is a
human gene that produces an
enzyme called
protoporphyrinogen oxidase. This enzyme is responsible for the seventh step in
heme production. Heme is the portion of hemoglobin that carries oxygen in the blood from the lungs to the rest of the body. Each of the steps in heme production is controlled by a separate gene (see below). Protoporphyrinogen oxidase removes
hydrogen atoms from
protoporphyrinogen IX (the product of the sixth step in the production of heme) to form
protoporphyrin IX. One additional enzyme must modify protoporphyrin IX before it becomes
heme.
The PPOX gene is located on the long (q) arm of
chromosome 1 at position 22, from
base pair 157,949,266 to base pair 157,954,082.
The following genes are part of the chemical pathway for making heme.
- ALAD: aminolevulinate, delta-, dehydratase
- ALAS1: aminolevulinate, delta-, synthase 1
- ALAS2: aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
- CPOX: coproporphyrinogen oxidase
- FECH: ferrochelatase (protoporphyria)
- HMBS: hydroxymethylbilane synthase
- PPOX: protoporphyrinogen oxidase
- UROD: uroporphyrinogen decarboxylase
- UROS: uroporphyrinogen III synthase (congenital erythropoietic porphyria)
Related conditions
Variegate porphyria is caused by mutations in the PPOX gene. More than 100 mutations that can cause variegate porphyria have been identified in the PPOX gene. One mutation, a substitution of the
amino acid tryptophan for
arginine at position 59 (also written as Arg59Trp or R59W), is found in about 95 percent of
South African families with variegate porphyria. Mutations in the PPOX gene reduce the activity of the enzyme made by the gene, allowing byproducts of heme production to build up in the body. This buildup, in combination with nongenetic factors (such as certain drugs,
alcohol and dieting), causes this type of porphyria.
Further Information
Get more info on 'Ppox'.
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