DEGS2

DEGS2, also known as delta-14-sterol reductase 2, is an enzyme encoded by the DEGS2 gene in humans. This enzyme belongs to the desmosterol reductase family and plays a crucial role in cholesterol metabolism. Specifically, DEGS2 is involved in the conversion of sterols with a double bond at the delta-14 position to their saturated counterparts. This process is an essential step in the biosynthesis of cholesterol.

The DEGS2 gene is primarily expressed in the liver and other tissues where cholesterol synthesis is active. Mutations in the DEGS2 gene have been linked to certain metabolic disorders. For instance, research suggests that DEGS2 deficiency can lead to an accumulation of sterol intermediates, potentially impacting cellular function and contributing to disease phenotypes. Studies have identified specific mutations that impair enzyme activity, leading to altered sterol profiles in affected individuals.

Understanding the function of DEGS2 is important for comprehending the intricate pathways of cholesterol homeostasis. Its role in sterol metabolism also makes it a potential target for therapeutic interventions aimed at managing cholesterol-related diseases. Further research continues to explore the full spectrum of DEGS2's functions and its implications in human health and disease.