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Article

The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels.

Biochimica et biophysica acta - 1 Jan 2016

Schadzek Patrik, Schlingmann Barbara, Schaarschmidt Frank, Lindner Julia, Koval Michael, Heisterkamp Alexander, Preller Matthias, Ngezahayo Anaclet

Abstract excerpt

The mutation N188T in human connexin46 (hCx46) correlates with a congenital nuclear pulverulent cataract. This mutation is in the second extracellular loop, a domain involved in docking of gap junction hemichannels. To analyze the functional consequences of this mutation, we expressed hCx46N188T and the wild type (hCx46wt) in Xenopus oocytes and HeLa cells. In Xenopus oocytes, hemichannels formed by hCx46wt and...

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PMID: 26449341
DOI: 10.1016/j.bbamem.2015.10.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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