Protoporphyrinogen oxidase: Difference between revisions
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==Clinical significance== | ==Clinical significance== | ||
Deficiencies or malfunctions in protoporphyrinogen oxidase can result in a group of disorders known as [[porphyrias]]. These are metabolic disorders characterized by an accumulation of porphyrins or porphyrin precursors, leading to a variety of symptoms including skin photosensitivity, abdominal pain, and neurological complications. | Deficiencies or malfunctions in protoporphyrinogen oxidase can result in a group of disorders known as [[porphyrias]]. These are metabolic disorders characterized by an accumulation of porphyrins or porphyrin precursors, leading to a variety of symptoms including skin photosensitivity, abdominal pain, and neurological complications. | ||
Latest revision as of 14:07, 16 February 2025
An enzyme involved in heme biosynthesis
Protoporphyrinogen oxidase
Protoporphyrinogen oxidase[edit]
Protoporphyrinogen oxidase (PPOX) is an enzyme that plays a crucial role in the biosynthesis of heme, an essential component of hemoglobin, myoglobin, and various cytochromes. This enzyme catalyzes the oxidation of protoporphyrinogen IX to protoporphyrin IX, a key step in the heme synthesis pathway.
Function[edit]
Protoporphyrinogen oxidase is located in the mitochondrial membrane and is responsible for the seventh step in the heme biosynthetic pathway. The enzyme facilitates the conversion of protoporphyrinogen IX, a colorless compound, into protoporphyrin IX, a colored compound, by removing six hydrogen atoms. This reaction is crucial for the subsequent incorporation of iron to form heme.
Structure[edit]
PPOX is a flavoprotein, meaning it contains a flavin adenine dinucleotide (FAD) cofactor that is essential for its enzymatic activity. The enzyme is encoded by the PPOX gene, which is located on chromosome 1 in humans. Mutations in this gene can lead to disorders such as variegate porphyria.
Clinical significance[edit]
Deficiencies or malfunctions in protoporphyrinogen oxidase can result in a group of disorders known as porphyrias. These are metabolic disorders characterized by an accumulation of porphyrins or porphyrin precursors, leading to a variety of symptoms including skin photosensitivity, abdominal pain, and neurological complications.
