ELOVL5

ELOVL5, also known as Fatty Acid Elongase 5, is an enzyme encoded by the ELOVL5 gene in humans. It belongs to the Elovl family of enzymes, which are responsible for the elongation of fatty acids. Specifically, ELOVL5 catalyzes the rate-limiting step in the synthesis of very long-chain polyunsaturated fatty acids (VLC-PUFAs). These VLC-PUFAs, such as docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA), are crucial components of cell membranes and play important roles in various physiological processes.

The ELOVL5 enzyme is a transmembrane protein located in the endoplasmic reticulum. It utilizes malonyl-CoA as a substrate and elongates fatty acids by adding two-carbon units. ELOVL5 has a preference for omega-3 and omega-6 polyunsaturated fatty acids, making it particularly important for the production of DHA and arachidonic acid. These fatty acids are vital for brain development, visual function, inflammation regulation, and cardiovascular health.

Mutations in the ELOVL5 gene have been associated with several human diseases. One such condition is Sjogren-Larsson Syndrome (SLS), a rare autosomal recessive disorder characterized by ichthyosis, spasticity, and intellectual disability. In SLS, mutations in ELOVL5 lead to impaired fatty acid elongation, resulting in the accumulation of specific fatty aldehydes and altered lipid profiles. Research into ELOVL5 continues to shed light on its role in lipid metabolism and its implications for human health and disease.