Delta 4-desaturase, sphingolipid 2 (DEGS2)

Delta 4-desaturase, sphingolipid 2 (DEGS2) is a bifunctional enzyme that acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-hydroxylase, playing a crucial role in the biosynthesis of phytosphingolipids and ceramide in humans. DEGS2 is active in various tissues, especially in the skin, intestines, kidney, and brain. It regulates sphingolipid composition by catalyzing the formation of ceramide, a key structural and signaling lipid component. Genetic polymorphisms in DEGS2 have been linked to cognitive dysfunction in schizophrenia and to rare developmental syndromes such as Robinow syndrome. DEGS2 is part of the desaturase/hydroxylase enzyme family and its function is essential for proper sphingolipid metabolism and membrane integrity[1][2][3][4][5].

Other names

Sphingolipid delta(4)-desaturase/C4-hydroxylase DES2C14orf66DES2FADS8Degenerative spermatocyte homolog 2Sphingolipid C4-monooxygenaseDihydroceramide desaturase 2Sphingolipid 4-desaturaseSphingolipid delta(4)-desaturase 2Lipid desaturaseChromosome 14 open reading frame 66

Inhibition or modulation of enzymatic activity would affect sphingolipid metabolism and ceramide composition[1][2][4][5].