Serine active site-containing protein 1 (SERAC1)

Serine active site-containing protein 1 (SERAC1) is an enzyme found at the interface between the mitochondria and the endoplasmic reticulum in human cells. SERAC1 plays a crucial role in remodeling the phospholipid phosphatidylglycerol, which is essential for the synthesis and proper composition of cardiolipin—a lipid vital for mitochondrial inner membrane structure and function. Cardiolipin remodeling is necessary for energy production and mitochondrial integrity. SERAC1 also facilitates intracellular cholesterol distribution. Mutations in SERAC1 disrupt these processes, resulting in mitochondrial dysfunction, defective cholesterol trafficking, and multi-systemic disorders such as MEGDEL syndrome, which is characterized by 3-methylglutaconic aciduria, sensorineural deafness, encephalopathy, and Leigh-like brain lesions. While critical for basic cell biology and implicated as the cause of severe inherited metabolic disorders, SERAC1 is not currently considered a druggable pharmacological target or a receptor, and no therapeutic agents directly target this protein.

Other names

Protein SERAC1FLJ14917Serine active site containing 1