ELOVL1

ELOVL1 (Elongation of Very Long Chain Fatty Acids Protein 1) is an endoplasmic reticulum-resident enzyme that catalyzes the elongation of long-chain fatty acids (C18–C20) to very long-chain fatty acids (VLCFAs, ≥C22). Using malonyl-CoA as a carbon donor and NADPH as a cofactor, it supports synthesis of sphingolipids and glycerophospholipids containing VLCFAs—critical components for cell membrane integrity and myelin sheath formation.
Mutations in ELOVL1 cause autosomal recessive congenital ichthyosis (ARCI), marked by dry, scaly skin due to deficient VLCFAs in stratum corneum lipids. While specific ELOVL1-targeted drugs remain preclinical, research explores enzyme activators or gene therapies to restore VLCFA levels, addressing ARCI symptoms and potential neurodegenerative issues linked to myelin defects.