Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance.
this study identified the genetic susceptibility of GJA8 polymorphisms on ARC and provides new clues for fully understanding the pathological mechanism of GJA8 variants in affecting lens opacity
The G46V and W45S mutations of connexin 50 are in adjacent amino acids. W45S inhibits gap junctional channel function while G46V reduces cell viability by forming open hemichannels.
the C-terminus of human Cx50 is involved in pHi sensitivity but has little influence over single-channel conductance voltage dependence or gating kinetics.
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