PPOX Gene

 PPOX Gene provides informations to produce an enzyme called protoporphyrinogen oxidase ,This enzyme is responsible for the seventh step in the production of heme, the iron-containing part of hemoglobin.Hemoglobin is the oxygen-carrying protein in red blood cells. Each step in heme production is controlled by a different enzyme, each of which is produced from a single gene. 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 modifies protoporphyrin IX before it becomes heme. The heme molecule is incorporated into hemoglobin and packaged into red blood cells, or it is used in the liver for the production of certain liver enzymes.

Location

PPOX gene is present in human chromosome1 and its coded from the region 159402818 to 159407634,the cytogenetic location 1q22, the gene size is 4817 bp with 13 exonic regions

Disorder:

Mutations in this gene causes a  porphyria disorder

More than 100 mutations that cause a form of porphyria called variegate porphyria have been identified in the PPOX gene. A particular mutation that changes one of the building blocks (amino acids) used to make protoporphyrinogen oxidase is found in about 95 percent of South African families with variegate porphyria. Specifically, this genetic change substitutes the amino acid tryptophan for the amino acid arginine at position 59 (written as Arg59Trp or R59W). Mutations in the PPOX gene reduce the activity of protoporphyrinogen oxidase, 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.