Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant

Connexin-50 (Cx50) is among the most frequently mutated genes associated with congenital cataracts. While of these disease-linked variants cause loss-of-function due to misfolding or aberrant trafficking, others directly alter channel properties. The mechanistic bases for such functional defects are mostly unknown. We investigated and structural properties a cataract-linked mutant, Cx50T39R (T39R), in Xenopus oocyte system. T39R exhibited greatly enhanced hemichannel currents altered voltage-gating compared Cx50 induced cell death.