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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Gap junction protein, alpha 8, 50kDa

CAE, Cx50, connexin50, GJA8
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] (from NCBI)
Papers on CAE
Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductance.
GeneRIF
Bai et al., London, Canada. In Biophys J, 2012
D3 residue plays an essential role in unitary conductance of Cx50 gap junction channels
Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels.
GeneRIF
Paul et al., Boston, United States. In Mol Biol Cell, 2011
Normal Cx50 function requires an intact PDZ domain-binding motif.
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
GeneRIF
Dada et al., New Delhi, India. In Mol Vis, 2010
Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed.
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.
GeneRIF
Zhang et al., Guangzhou, China. In Mol Vis, 2010
Mutations in GJA8 and CRYAA were identified in three Chinese families with cataract and microcornea.
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
GeneRIF
Lu et al., Shanghai, China. In Mol Vis, 2010
A missense D47N mutation in GJA8 is associated with autosomal dominant congenital cataract in a Chinese family.
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