Individuals with naturally occurring mutations that inhibit HMGCR have low plasma LDL-C levels, but increased intracellular cholesterol levels and a greater risk of T2D [191], while individuals with mutations in the low-density lipoprotein receptor (LDLR) have extreme elevations in plasma LDL-C levels but a decreased prevalence of T2D proportional to the severity of the LDLR mutation [195]. The gene discussed is LDLR; the disease is type 2 diabetes mellitus.