CDS1 (CDP-diacylglycerol synthase 1) catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol, a critical intermediate in the biosynthesis of phosphatidylglycerol, cardiolipin, and phosphatidylinositol. The enzyme exhibits no discrimination for acyl chain composition at the sn-1/sn-2 positions of its substrate. Beyond its canonical role in phospholipid synthesis, CDS1 regulates lipid droplet growth and positively promotes adipocyte differentiation, linking it to cellular energy homeostasis and lipid storage. The gene's involvement in these processes suggests roles in metabolic regulation and cell fate determination. CDS1 mutations are associated with diverse clinical phenotypes including abnormal erythrocyte morphology, ocular disease (cataracts, ocular cancer), reproductive dysfunction (azoospermia), skeletal abnormalities (adolescent idiopathic scoliosis), hypertension, and liver pathology. The breadth of disease associations likely reflects the fundamental requirement for phospholipid synthesis and lipid homeostasis across multiple tissues. However, systematic characterization of pathogenic CDS1 variants and their functional consequences remains limited compared to other lipid biosynthesis genes, indicating a gap in clinical variant interpretation.