Figure 2. Functional effects of abnormal phosphatase and tensin homolog located on chromosome 10 (PTEN).

(A) Immunoblot (with marker size in kDa) shows expression of PTEN in fibroblasts from 2 controls (C1, C2) and the patient. (B) Quantification of mean relative PTEN expression between controls (C1, C2) and patient fibroblasts (3 replicates). (C) PTEN^C124S but not PTEN^F90S shows reduced enzymatic activity against 150 µM PI(2,4,5)P₃ and 200 µM PI(3,4)P₂ compared to PTEN^WT. (D) PTEN^F90S shows reduced activity against <100 µM PI(3,4)P₂ compared to PTEN^WT. (E) The roles of PTEN within the phosphatidylinositol system, with human mutations causing neuropathy and cancer highlighted according to the key.