Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression

摘要

Expression of ACSL5 protein isoforms in LCLs. ACSL5 scheme representing the major protein isoforms. Western blots of mitochondrial (mit) extracts from LCLs bearing the three rs2256368:A>G genotypes (AA, AG, GG) loaded at different concentrations (1X, 1.5X and 2X). The three LCLs expressed different proportions of Spl RNA respect to the NSpl one (AA— 1.8%, AG—14%, and GG—43%). Molecular weights of ACSL5 L and S were calculated from the amino acid sequence