PLA2G4C
The PLA2G4C Gene: A Comprehensive Guide
Description
The PLA2G4C gene, located on chromosome 19, encodes the enzyme phospholipase A2 group IVC (PLA2G4C). This enzyme plays a crucial role in lipid metabolism, specifically in the hydrolysis of phospholipids to release arachidonic acid. Arachidonic acid is a precursor for the production of prostaglandins, leukotrienes, and other lipid mediators involved in inflammation, pain, and immune responses.
Associated Diseases
Mutations in the PLA2G4C gene have been linked to several diseases, including:
- Neurodegenerative diseases: PLA2G4C mutations are associated with an increased risk of Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis (ALS). These mutations impair PLA2G4C's function, leading to an accumulation of toxic lipid metabolites in the brain and neuronal damage.
- Skin disorders: PLA2G4C mutations have been linked to psoriasis, eczema, and other inflammatory skin conditions. These mutations affect PLA2G4C's ability to regulate inflammation and contribute to the development of skin lesions.
- Cardiovascular diseases: PLA2G4C mutations have been associated with an increased risk of coronary artery disease and stroke. These mutations affect PLA2G4C's role in lipid metabolism and contribute to the formation of atherosclerotic plaques in blood vessels.
- Other diseases: PLA2G4C mutations have also been linked to obesity, type 2 diabetes, and certain types of cancer.
Did you Know ?
- A 2020 study estimated that approximately 1% of the population carries a mutation in the PLA2G4C gene. However, the prevalence of disease-causing mutations varies depending on the population studied.
