Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels

@inproceedings{Snchez2016SyndromicDM,
  title={Syndromic deafness mutations at Asn 14 differentially alter the open stability of Cx26 hemichannels},
  author={Helmuth A. S{\'a}nchez and Nefeli Slavi and Miduturu Srinivas and Vytas K. Verselis},
  booktitle={The Journal of general physiology},
  year={2016}
}
Connexin 26 (Cx26) is a transmembrane protein that forms hexameric hemichannels that can function when unopposed or dock to form intercellular gap junction channels. Aberrantly functioning unopposed hemichannels are a common feature of syndromic deafness associated with mutations in Cx26. In this study, we examine two different mutations at the same position in the N-terminal domain of Cx26, N14K and N14Y, which have been reported to produce different phenotypes in patients. We find that both… CONTINUE READING

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