PAOX
The PAOX Gene: Unraveling Its Role in Human Health
Description
The PAOX gene, located on chromosome 16, encodes the peroxisomal assembly factor 1 (PAOX1) protein. This protein plays a crucial role in the biogenesis of peroxisomes, specialized organelles found in cells that are responsible for various metabolic processes, including lipid metabolism, detoxification, and reactive oxygen species (ROS) detoxification.
Associated Diseases
Mutations in the PAOX gene have been linked to several rare genetic disorders, primarily affecting the nervous system and white blood cells:
- Zellweger syndrome: A severe neurodegenerative disorder characterized by severe developmental delays, facial abnormalities, seizures, and liver dysfunction.
- Neonatal adrenoleukodystrophy (NALD): A less severe form of Zellweger syndrome that primarily affects the brain and causes delayed development, hypotonia, and seizures.
- Infantile Refsum disease: A rare condition characterized by neurological and ophthalmological abnormalities, including optic atrophy, hearing loss, and developmental delay.
In all these diseases, defects in the PAOX protein lead to impaired peroxisome biogenesis and subsequent dysfunction of peroxisome-dependent metabolic pathways, resulting in the accumulation of toxic substances and oxidative stress.
Did you Know ?
Approximately 1 in 50,000 newborns worldwide is affected by Zellweger syndrome, making it one of the most common peroxisome biogenesis disorders.
