Connexin26 mutations and KID syndrome
This micrograph shows a cell with a D50Y mutation in connexin26. Cx26 protein (red) and golgin-97 (green) colocalize more frequently than in wildtype cells. D50Y and I30N mutations result in the formation of aberrant hemichannels that might elevate intracellular calcium levels, which may contribute to the hyperproliferative epidermal phenotypes of KID syndrome.
Aypek et al. BMC Cell Biol. 17:5
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Ying Lou, BioMed Central
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11 December 2018