Table 1.

Overview of ODDD-linked mutations in different Cx43 domains, their effect on Cx channel properties and the associated neurologic phenotypes.

For references see text. Neurological traits are from Paznekas et al. (2003) and Abrams and Scherer (2012) and references therein, unless indicated.

^*The role of the EL domains in the determination of Cx channel permselectivity has been suggested based on observations in Cx46 channels. TM2 is implicated in regulating permselectivity of Cx26 channels. Thus far, nothing is known on the role of these domains in regulating permselectivity of Cx43 channels.

^#Only for certain exogenous markers. With other markers, GJIC is similar to WT Cx43.

^‡Quintáns et al., 2013

DN, dominant negative effect; n.a., data not available; PM, plasma membrane; UMN, upper motor neuron.

Mutants in italic font are inherited in an autosomal recessive manner.