PPAP2B
The PPAP2B Gene: Unveiling Its Role in Health and Disease
Description
The PPAP2B gene, located on chromosome 6, encodes an enzyme called phosphatidic acid phosphatase type 2B. This enzyme plays a crucial role in lipid metabolism, specifically in the regulation of phosphatidic acid levels. Phosphatidic acid is an important signaling molecule that is involved in various cellular processes, including cell proliferation, apoptosis, and inflammation.
Associated Diseases
Mutations in the PPAP2B gene have been linked to several diseases, including:
- Zellweger syndrome: A rare genetic disorder characterized by the absence of peroxisomes, which are cellular organelles essential for lipid metabolism.
- Neonatal adrenoleukodystrophy: A severe neurological disorder that affects newborns and is characterized by rapid degeneration of white matter in the brain.
- Infantile Refsum disease: A genetic disorder that affects the nervous system and is caused by mutations in the PPAP2B gene or other genes involved in peroxisome biogenesis.
- Aicardi-Goutières syndrome: A rare genetic disorder characterized by inflammation of the brain and other parts of the body.
Did you Know ?
Approximately 1 in 50,000 newborns are affected by Zellweger syndrome, making it one of the most common peroxisomal disorders.
