Mutations at two positions in Cx26 located within this parahelical region of E1, G45E, and D50N/A are associated with KID syndrome, and these mutant Cx26 channels were shown to exhibit a multiplicity of aberrant properties (Gerido et al., 2007; Mhaske et al., 2013; Sánchez et al., 2010; Sanchez et al., 2013; Stong et al., 2006). The gene discussed is GJB2; the disease is KID syndrome.