Delta(4)-dihydroceramide desaturase, the protein encoded by DEGS1, acts as a catalyzing enzyme in the synthesis of ceramide, a basic building block of sphingolipids. Sphingolipids are essential [...]
Hallermann-Streiff syndrome is a rare congenital syndrome that is well-known but whose genetic cause has so far not been unraveled – although researchers have intensively investigated the [...]