Ask about this productRelated genes to: GJA3 antibody
- Gene:
- GJA3 NIH gene
- Name:
- gap junction protein alpha 3
- Previous symbol:
- CZP3
- Synonyms:
- CX46
- Chromosome:
- 13q12.11
- Locus Type:
- gene with protein product
- Date approved:
- 1990-02-12
- Date modifiied:
- 2015-11-09
Related products to: GJA3 antibody
Related articles to: GJA3 antibody
- TORCH serology is frequently used to evaluate paediatric cataracts but can be misleading beyond the neonatal period. We report a 2-year-old male with bilateral cataracts and dual IgM positivity for Cytomegalovirus (CMV) and Rubella. Despite initial infectious suspicion, negative CMV PCR and a significant maternal family history prompted genetic testing. Whole-exome sequencing identified an 11p13 duplication and GJA3 variants, confirming a hereditary etiology. This case highlights the microbiological challenge of IgM cross-reactivity and polyclonal activation. It underscores the necessity of clinicomicrobiological correlation and molecular confirmation to prevent misdiagnosing genetic conditions as active TORCH infections. - Source: PubMed
Publication date: 2026/08/12
Bansal HaripriyaGadepalli RavisekharKumar Devendra - Age-related cataract (ARC) is a degenerative change following the aging of the lens, with its specific pathogenesis still unclear. This study investigates the expression of GSK-3β, DNMT3B, and GJA3 in ARC through in vivo and in vitro studies, elucidating the regulatory mechanisms among them. Additionally, it preliminarily explores the role of DNMT3B in the epigallocatechin gallate (EGCG)-mediated delay of apoptosis in lens epithelial cells (LECs). Immunohistochemistry and Western blot results showed that the protein expression level of DNMT3B was elevated, while the protein expression levels of GJA3 and p-GSK-3β (Ser9) were decreased in the ARC group and the aged mouse group (P < 0.05). CCK-8 and Hoechst 333,42 apoptosis assays indicated that DNMT3B, GJA3, and p-GSK-3β (Ser9) were involved in HO-induced apoptosis of LECs. Further investigation revealed that DNMT3B regulates lens epithelial cell apoptosis by modulating GJA3 expression, and the expression of DNMT3B is regulated by GSK-3β. Additionally, we found that EGCG effectively alleviates DNMT3B-mediated apoptosis of LECs (P < 0.05). In summary, our study indicates that p-GSK-3β, DNMT3B, and GJA3 play significant roles in ARC and oxidative stress-induced apoptosis of LECs, with interrelated regulatory mechanisms. EGCG can target DNMT3B to reduce apoptosis in LECs, offering a new direction for the development of cataract treatments. - Source: PubMed
Publication date: 2026/06/18
Chen XiaoyaSu DongmeiZhang GaoboXiang ZihanFu YanjiangSun ZhaoyiHu YuzhuLi SijiaZhang YueMa XuHu ShanshanWei Qianqiu - Posterior polar cataract (PPC), a rare congenital cataract, is characterized by subcapsular opacities in the lens affecting vision and posing surgical challenges. Genetic heterogeneity exists, though several genes are implicated in its pathogenesis. This study reports on the genetic profile of late-onset PPC cases and identifies variations specific to posterior capsular rupture (PCR) during surgery. - Source: PubMed
Publication date: 2026/02/11
Sharma AnshulSharma NamrataAgarwal TusharSharma ArundhatiVajpayee Rasik B - Congenital cataract (CC), defined as lens opacity present at birth or in early infancy, is a major cause of reversible childhood blindness and shows marked genetic heterogeneity. This study aimed to investigate the genetic basis of CC in a multigenerational Chinese family. - Source: PubMed
Publication date: 2026/01/13
Zhou ChenchenLi KunkeZhou ZhenxingJian ShuhuiJin LingWang ChenghuZhang Xiaoqian - Gap junctions, formed by connexin proteins, establish direct electrical and metabolic coupling between cells, enabling coordinated tissue responses. These channels universally respond to intracellular pH changes, closing under acidic conditions to limit the spread of cytotoxic signals during cellular stress, such as ischemia. Using cryo-electron microscopy (cryo-EM), we uncover insights into the structural mechanism of pH-gating in native lens connexin-46/50 (Cx46/50) gap junctions. Mild acidification drives lipid infiltration into the channel pore, displacing the N-terminal (NT) domain and stabilizing pore closure. Lipid involvement is shown to be both essential and fully reversible. Structural transitions involve an ensemble of gated states formed through non-cooperative NT domain movement as well as minor populations of a distinct destabilized open-state. These findings provide molecular insights into pH-gating dynamics, illustrating how structural changes may regulate gap junction function under cellular stress and linking Cx46/50 dysregulation to age-related cataract formation. - Source: PubMed
Publication date: 2026/01/12
Jarodsky Joshua MMyers Janette BReichow Steve L