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Article

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

American journal of physiology. Cell physiology - 1 Sept 2000

Pal J D, Liu X, Mackay D, Shiels A, Berthoud V M, Beyer E C, Ebihara L

Abstract excerpt

Human connexin46 (hCx46) forms gap junctional channels interconnecting lens fiber cells and appears to be critical for normal lens function, because hCx46 mutations have been linked to congenital cataracts. We studied two hCx46 mutants, N63S, a missense mutation in the first extracellular domain, and fs380, a frame-shift mutation that shifts the translational reading frame at amino acid residue 380. We expressed...

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PMID: 10942709
DOI: 10.1152/ajpcell.2000.279.3.C596

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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