MPV17 loss of function affects the purine branch of mitochondrial salvage pathway.

Representative immunoblot thymidine kinase 2 (TK2) in (A) control and MPV17-mutant fibroblasts in dividing and quiescent cells, and (B) in the liver of wild-type (WT) and knockout (KO) mice. (C) Steady state levels of adenylate kinase 2 and 3 (AK2 and AK3) and Deoxyguanosine Kinase (Dguok) in the liver of wild-type (WT) and knockout (KO) mice. The arrow indicates the Dguok isoform downregulated in KO mouse liver. The samples were from 2 month-old mice unless indicated. (D) AK2, AK3 and DGUOK steady state levels in control and MPV17 mutant fibroblasts in proliferating and quiescent cells. Vinculin, GAPDH, and Tom20 were used as loading control.