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Article

An aberrant sequence in a connexin46 mutant underlies congenital cataracts.

The Journal of biological chemistry - 9 Dec 2005

Minogue Peter J, Liu Xiaoqin, Ebihara Lisa, Beyer Eric C, Berthoud Viviana M

Abstract excerpt

An increasing number of diseases have been mapped to genes coding for ion channel proteins, including the gap junction proteins, connexins. Here, we report on the identification of an amino acid sequence underlying the behavior of a non-functional mutant connexin46 (CX46) associated with congenital cataracts. The mutant protein, CX46fs380, is 31 amino acids longer than CX46 and contains 87 aberrant amino acids in...

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Identifiers

PMID: 16204255
DOI: 10.1074/jbc.M504765200
PMCID: PMC2720622

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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