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. 2019 Aug 5;129(10):4009–4021. doi: 10.1172/JCI129190

Figure 2. Some of the genes/proteins in which mutations cause lipodystrophy have well-characterized roles in the function of adipocytes.

Figure 2

PPARγ (mutated in FPLD3) is the “master regulator” of adipogenesis. It heterodimerizes with retinoid X receptor and coordinates the transcription of multiple proteins central to adipocyte function (e.g., perilipin, CD36, and lipoprotein lipase). BSCL2, or seipin (mutated in CGL2), is an ER protein required for early lipid droplet (LD) biogenesis. AGPAT2 (mutated in CGL1) is necessary for the conversion of glycerophosphates (G-3-P) into triacylglycerols (TAGs) using fatty acids linked to coenzyme A (FA-CoA). CAV1 (mutated in CGL3) and PTRF (mutated in CGL4) are required for the formation of caveolae, which may be sites for nonesterified fatty acid (NEFA) uptake. PLIN1 (mutated in FPLD4) regulates lipolysis from lipid droplets, and HSL (mutated in FPLD6) is one of the lipases involved in this process. Finally, CIDEC (mutated in FPLD5) is required for the formation of unilocular lipid droplets, though how this is achieved is unclear.