CDS2
Description
The CDS2 (CDP-diacylglycerol synthase 2) is a protein-coding gene located on chromosome 20.
The CDS2 gene encodes phosphatidate cytidylyltransferase 2, an enzyme crucial for regulating the amount of phosphatidylinositol available for signaling. This enzyme catalyzes the conversion of phosphatidic acid to CDP-diacylglycerol. CDS2 is an integral membrane protein found in two subcellular compartments: the matrix side of the inner mitochondrial membrane, where it is involved in the synthesis of phosphatidylglycerol and cardiolipin, and the cytoplasmic side of the endoplasmic reticulum, where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans: CDS1, located on chromosome 4q21, and CDS2, located on chromosome 20p13.
CDS2 catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), a key intermediate in the synthesis of phosphatidylglycerol, cardiolipin, and phosphatidylinositol. It shows preference for specific acyl chain compositions at the sn-1 and sn-2 positions of PA, with 1-stearoyl-2-arachidonoyl-sn-phosphatidic acid being favored. CDS2 plays a crucial role in regulating lipid droplet growth and maturation, essential organelles for lipid and energy homeostasis.
CDS2 is also known as -.
Associated Diseases
- neutropenia, severe congenital, 2, autosomal dominant
- combined immunodeficiency with skin granulomas
- common variable immunodeficiency
- immunodeficiency 18
- severe combined immunodeficiency due to IKK2 deficiency
- achalasia-alacrima syndrome
