Protoporphyrinogen Oxidase (PPOX) Antibody – Rabbit Polyclonal

This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

PPOX: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. Defects in PPOX are the cause of variegate porphyria (VP). Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. PV is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Belongs to the protoporphyrinogen oxidase family.

Protein type: Mitochondrial; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Oxidoreductase; EC 1.3.3.4

Chromosomal Location of Human Ortholog: 1q22

Cellular Component: mitochondrial membrane; integral to mitochondrial inner membrane; mitochondrial intermembrane space; intrinsic to mitochondrial inner membrane

Molecular Function: protoporphyrinogen oxidase activity; FAD binding

Biological Process: response to drug; porphyrin metabolic process; protoporphyrinogen IX biosynthetic process; porphyrin biosynthetic process; heme biosynthetic process

Disease: Porphyria Variegata