Figure 3.

Figure demonstrating KLHL7 protein monoallelic gene mutations are located at the BACK domain, which with BTB domain will interfere with CUL3 binding, which usually polyubiquitinates target proteins for proteasome-mediated degradation. This has been found to be associated with autosomal dominant retinitis pigmentosa (RP). Biallelic gene mutations (gene mutation in current paper highlighted in red, p.Arg351) are found in the Kelch domain with clinical phenotypes of BOS/CS and CS/CSS1 syndrome. adRP, autosomal dominant retinitis pigmentosa; BOS, Bohring-Opitz syndrome; CISS1, old-induced sweating syndrome type 1; CS, Crisponi syndrome.