Exploring Seipin: From Biochemistry to Bioinformatics Predictions

Figure 7

Inheritance pattern of seipin-related diseases. Here, we summarize the inheritance mechanism of seipin-related diseases. (a–c) BSCL type 2, a loss-of-function, and recessive disease. (d-e) Seipinopathies, gain-of-function, and dominant diseases. (f–h) Progressive encephalopathy with or without lipodystrophy (PELD) and a gain-of-function and recessive disease. Pieces of the illustrations are from the SMART website [40]. Or other mutations related to BSCL type 2. Or other mutations related to seipinopathy. BSCL: Berardinelli-Seip congenital lipodystrophy; dHMN: distal hereditary motor neuropathies; SS: Silver syndrome.