Figure 5.
Expression of transiently transfected wild-type and mutant CA XII protein in HEK 293 cells. Western blot of cell lysates extracted from HEK 293 cells (top) following transfection with CA XII expression vectors. Probing with anti-CA XII antibody (Novus) shows unglycosylated (39 kDa) and glycosylated (43 kDa) protein generated from transfections with WT CA12 (lane 2), c.363 C>A (lane 7) and c.427 G>A (lane 8). The insertion variant in proband A (c.859_860insACCT) produced a faint band of approximately 38 kDa while CA XII cDNA missing exon 10 and exons 9 and 10 sequence generated only faint bands. The negative control in the first lane is a mock transfection. The third lane has no lysate. GAPDH loading control (bottom) shows loading of cell lysates.