CerS2

CerS2, also known as CERS2 or ceramide synthase 2, is a protein encoded by the CERS2 gene. It is a member of the ceramide synthase family, which are enzymes responsible for the de novo synthesis of ceramides. Ceramides are essential lipid molecules that play crucial roles in various cellular processes, including cell growth, differentiation, apoptosis, and stress response.

CerS2 specifically catalyzes the transfer of very long-chain fatty acids (VLCFAs) to sphingoid bases, forming very long-chain ceramides. These ceramides are important components of cell membranes and are involved in maintaining skin barrier function. Mutations in the CERS2 gene have been linked to various genetic disorders, including ichthyosis and intellectual disability.

The expression of CerS2 is particularly high in the epidermis, the outermost layer of the skin, where it contributes to the formation of the stratum corneum, the protective outer layer of the skin. Dysregulation of CerS2 activity can lead to impaired skin barrier function and increased susceptibility to infections. Research is ongoing to further understand the precise functions of CerS2 and its role in human health and disease.