CDPX2

CDPX2, also known as CDP diacylglycerol pyrophosphatase 2, is a protein that in humans is encoded by the CDPX2 gene. This gene is located on chromosome 19q13.3. CDPX2 is a member of the CDP-diacylglycerol pyrophosphatase family, which includes CDPX1 and CDPX2. These enzymes catalyze the hydrolysis of CDP-diacylglycerol to diacylglycerol and CMP, a reaction that is important in the regulation of glycerolipid metabolism.

The CDPX2 gene spans approximately 12.6 kilobases and contains 11 exons. It is highly conserved across species, indicating its importance in various biological processes. CDPX2 is expressed in a wide range of tissues, including the brain, liver, and kidney, suggesting its involvement in diverse physiological functions.

Mutations in the CDPX2 gene have been associated with several diseases, including X-linked ichthyosis and X-linked ichthyosis with alopecia. These conditions are characterized by abnormal skin and hair development, highlighting the critical role of CDPX2 in lipid metabolism and cellular differentiation.

In summary, CDPX2 is a protein encoded by the CDPX2 gene, which plays a crucial role in glycerolipid metabolism and cellular differentiation. Its expression and function are conserved across species, and mutations in the CDPX2 gene are linked to specific genetic disorders. Further research is needed to fully understand the molecular mechanisms and clinical implications of CDPX2 in health and disease.