AGPS : alkylglycerone phosphate synthase
Understanding the AGPS Gene
Description
The AGPS gene (alkylglycerone phosphate synthase) holds crucial instructions for producing the enzyme alkylglycerone phosphate synthase. This enzyme resides in cellular structures known as peroxisomes, which are organelle compartments containing enzymes essential for breaking down diverse substances. Peroxisomes also play a significant role in the production of lipids, vital for digestion and nervous system function.
Within peroxisomes, alkylglycerone phosphate synthase catalyzes a pivotal step in the synthesis of plasmalogens, lipid molecules prevalent in cell membranes throughout the body. These molecules are particularly abundant in myelin, the protective sheath encasing nerve cells. Despite their abundance, the precise functions of plasmalogens remain somewhat elusive. Scientists speculate that they may shield cells from oxidative stress, a condition arising from excessive accumulation of free radicals, which can damage or even destroy cells. Plasmalogens are also thought to influence lipid-protein interactions, chemical signaling within cells, and the fusion of cell membranes.
Associated Diseases
Mutations in the AGPS gene have been linked to a rare neurological disorder known as neuropathic cutis laxa with ichthyosis and palmoplantar keratoderma (NEDNIK). This condition is characterized by loose, wrinkled skin, dry and scaly skin on the palms and soles, and various neurological deficits.
Did you Know ?
Plasmalogens are highly concentrated in brain tissue, accounting for approximately 18-20% of total brain lipids. This abundance suggests their essential role in brain function and overall neurological health.
