Gjb3-KO Mouse

Gjb3, also known as Gap Junction Protein Beta 3, encodes Connexin31 protein (Cx31). Connexins are membrane-expressed proteins that assemble into hexamers to transfer metabolites and secondary messengers [4]. Gap junctions formed by connexins are channels on cytoplasm functioning in ion recycling and homeostasis, which are significant components in human skin and cochlea [6].

Gjb3 has been implicated in multiple diseases. In cancer, its expression in various cancers is associated with disease stages, patient survival, immunotherapy response, and pharmaceutical guidance. For example, knockdown of Gjb3 inhibits the PI3K/AKT pathway, reducing cancer cell proliferation, migration, and viability, suggesting it as a potential biomarker and therapeutic target, especially in lung adenocarcinomas, mesothelioma, pancreatic adenocarcinoma [1]. In pancreatic cancer, Gjb3 promotes liver metastasis by enhancing neutrophil polarization and survival [2]. In lung adenocarcinoma, high Gjb3 expression is related to poor prognosis, and there is a correlation with immune cell infiltration and immune checkpoint expression [3]. Mutations in Gjb3 are also involved in non-syndromic hearing loss, erythrokeratodermia variabilis (EKV), and neuropathy diseases [4,5,6].

In conclusion, Gjb3 is crucial for normal physiological functions related to gap-junction-mediated metabolite transfer. Its dysregulation, often studied through functional knockdown in in-vitro cancer cell lines, is associated with cancer progression and other diseases like hearing loss and skin disorders. Understanding Gjb3's role provides potential therapeutic targets for these diseases.