Recombinant Human Gap junction alpha-3 protein (GJA3)

1. novel mutation in GJA3 for autosomal dominant congenital cataract PMID: 28877251
2. The study identified a missense mutation (c. 176C>T) in GJA3 gene associated with autosomal dominant congenital pulverulent cataract in a Chinese family. PMID: 27609163
3. in vivo results indicated that down-regulation of GJA3 in lens epithelial cells was associated with age-related cataract genesis. Data from this study established the association of GJA3 down regulation with lens epithelial cells apoptosis and age-related cataract genesis PMID: 28088522
4. the role of the charged residues at the end of TM-1 in voltage sensing in Cx26, Cx46, and Cx50. PMID: 27143357
5. A novel missense GJA3 mutation that correlated with congenital cataract phenotype in a five-generation Chinese family. PMID: 26683566
6. This study identified three mutations in three Chinese families with hereditary cataracts. Of the three mutations, two were novel (c.125 A > C in GJA3 and c.268 C > T in GJA3), one was previously reported (c.218 C > T in GJA8). PMID: 25549162
7. The cataract related mutation N188T in human connexin46 revealed a critical role for residue N188 in the docking process of gap junction channels. PMID: 26449341
8. A novel missense mutation, c.428G>A (p.G143E), in the GJA3 gene, localized to the cytoplasmic loop, was suggested to be the genetic cause of congenital nuclear cataract, which further expands the gene mutation spectrum. PMID: 25635993
9. A novel GJA3 mutation (p.N55D) has been found in a Chinese family with congenital cataracts. PMID: 24728566
10. The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency. PMID: 24319337
11. a GJA3 mutation in a Chinese family with congenital nuclear cataract PMID: 24772942
12. these results suggest that mutation of this highly conserved residue on the cytoplasmic loop domain of Cx46 enhances its interaction with the C-terminus, resulting in a reduction of gap junction channel function PMID: 24019978
13. A 1361 insertion of a cytosine mutation in the C-terminus of GJA3 is found to be associated with autosomal dominant congenital coralliform cataract. PMID: 23592915
14. Coexpression of mutant with wild-type Cx50 or Cx46 gives rise to hemichannels with distinct electrophysiological properties, suggesting that the mutant connexins form heteromeric channels with wild-type connexins. PMID: 23302783
15. Suggest that Cx46 and Cx26 expression in breast cancer may improve the assessment of pathological response and refine intermediate prognostic subgroups of residual tumour classifications used after neoadjuvant chemotherapy. PMID: 23374644
16. These data indicate that biophysical and structural studies are converging towards a view that the N-terminal half of the Cx protein contains the principal components of the pore and gating elements. PMID: 22825713
17. the negatively charged aspartic acid residue at the third position of the N-terminus of hCx46 could be involved in the determination of the degree of metabolite cell-to-cell coupling and is essential for the voltage sensitivity of the hCx46 hemichannels. PMID: 22843197
18. A c.427G>A transition in exon 2 of GJA3 co-segregated with the cataract in the family members and was not observed in 100 control patients. PMID: 22876138
19. A novel mutation (p.F206I) in the fourth transmembrane domain of connexin 46 is associated with autosomal dominant congenital cataract in a three-generation Chinese family. PMID: 22550389
20. Novel missense mutation in the second extracellular loop of the GJA3 protein was detected, causing coral-like opacities in a Chinese family. PMID: 22312188
21. Cx46G2D of GJA3 is a novel mutation that was identified in a Chinese family with autosomal dominant nuclear pulverulent and posterior polar congenital cataracts. PMID: 21681855
22. A recurrent missense mutation in GJA3 is associated with autosomal dominant cataract linked to chromosome 13q in a 5-generation Caucasian American family. PMID: 21897748
23. A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree. PMID: 21647269
24. A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. PMID: 21552498
25. The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts. PMID: 21386927
26. Two new mutations, one in GJA3 and the other in CRYBB2, were identified co-segregating along with the respective cataract phenotype within the families that were not seen in healthy controls from India or Germany. PMID: 21031021
27. Novel missense mutation identified in first extracellular loop of connexin 46; this expands mutation spectrum of GJA3 in association with congenital cataract. PMID: 20431721
28. Upregulation of connexin46 is associated with breast tumors. PMID: 20013805
29. This finding is the first report of a mutation in the first transmembrane region of GJA3. PMID: 14627959
30. The present study has identified a fifth mutation in GJA3, rendering this connexin gene one of the most common non-crystallin genes associated with autosomal dominant cataracts in humans. PMID: 15208569
31. A novel CX46 missense mutation indetified in a large autosomal dominant congenital cataract Australian pedigree. PMID: 15286166
32. We conclude that connexin 46 mutations might account for as much as 3.3% of the hereditary congenital cataract in the Indian population. PMID: 16254549
33. This is the first report of a mutation in GJA3 causing autosomal dominant congenital cataract (ADCC) in this ethnic group. It is also the first reported cataract-causing mutation in the NH2-terminal region of the Cx46 protein. PMID: 16885921
34. The congenital "ant-egg" cataract phenotype is caused by a L11S mutation in connexin46 (Cx46) located in the signal peptide domain. PMID: 16971895
35. Particular form of Pelizaeus-Merzbacher disease involves mutation in connexin 46. PMID: 17492548
36. This is a novel mutation identified in the second transmembrane domain of the connexin 46. PMID: 17615540
37. Novel mutation (R33L) in the GJA3 associated with finely granular embryonal cataract. PMID: 17893674

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HGNC: 4277

OMIM: 121015

KEGG: hsa:2700

STRING: 9606.ENSP00000241125

UniGene: Hs.130313