Exploring Seipin: From Biochemistry to Bioinformatics Predictions

Figure 6

Gain-of-function mutations in seipin elicit ER stress in seipinopathies. Ito et al. proposed a model in which N88S and S90L mutations are able to disturb the seipin glycosylation site and generate ER stress and the unfolded protein response (UPR) [6]. They observed increased apoptosis as a result of the process. DDIT3 (also called CHOP) is a transcription factor responsible for the positive regulation of proapoptotic genes in response to ER stress. Calnexin (CANX) and GRP78 (also called BIP) are chaperones that work in UPR. As we reviewed, ER stress is not a phenomenon exclusively related to seipinopathy and might also be important for lipodystrophies. Pieces of the illustrations are from the SMART website [40].