Ask about this productRelated genes to: GJB1 Blocking Peptide
- Gene:
- GJB1 NIH gene
- Name:
- gap junction protein beta 1
- Previous symbol:
- CMTX1, CMTX
- Synonyms:
- CX32
- Chromosome:
- Xq13.1
- Locus Type:
- gene with protein product
- Date approved:
- 1990-02-12
- Date modifiied:
- 2019-04-23
Related products to: GJB1 Blocking Peptide
Related articles to: GJB1 Blocking Peptide
- X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a rare inherited neuropathy caused by mutations in the GJB1 gene, leading to progressive distal muscle weakness and atrophy. In this case study, a 37-year-old man presented with recurrent episodes of numbness involving the lips, right hand, and foot, followed by right-sided limb weakness and dysarthria four times over the past 20 years. Notably, the last three episodes were consistently triggered within 3 days after descent to sea level following exposure to high-altitude environments (8,500-10,000 feet, with transit above 13,000 feet). Based on the neurologic examination, brain magnetic resonance imaging (MRI), and genetic testing, the patient was diagnosed with X-linked Charcot-Marie-Tooth disease. This case underscores the importance of considering high-altitude exposure as a potential trigger and highlights the value of GJB1 testing in young patients presenting with acute stroke-like episodes and signs of peripheral neuropathy. - Source: PubMed
Publication date: 2026/02/12
Zhong JingYang TangWu BoJiang Shuai - Breast cancer (BC) metastasis is a serious concern in BC treatment. Early diagnosis and prompt intervention are extremely important for patients. Alterations in epigenetic modifications of circulating free DNA (cfDNA) have been reported during BC occurrence, but not before or after metastasis. Therefore, this study aimed to establish a highly metastatic 4T1 BC mouse model closely resembling stage IV human BC to explore changes in cfDNA methylation modifications before and after metastasis. The timing of BC metastasis was defined based on the first visible fluorescence detection in axillary lymph nodes using in small-animal imaging. The results showed that the methylation levels of CDH1 and Gjb1 in serum cfDNA changed significantly in BC before and after metastasis, displaying trends analogous to those observed in tumor tissue DNA. The methylation levels of cfDNA can be used as candidate biomarkers for the early diagnosis and monitoring of BC metastasis. - Source: PubMed
Publication date: 2026/02/17
Zhang ZhuoYang ShuhuiZhan XingtongJin ZhuoZhou XinchenZhang LiyingSun SiqiYang ChunXia WeiLiu Limei - Charcot-Marie-Tooth disease (CMT) is one of the most prevalent inherited peripheral neuropathies. CMT type X1 (CMTX1), caused by mutations in the GJB1 gene, represents the most common X-linked subtype with central nervous system (CNS) involvement. Here, we report the identification and functional characterization of a novel GJB1 variant (c.554C > T, p.Thr185Ile) in a CMTX1-affected family and its pathogenic impact using patient-derived induced pluripotent stem cells (iPSCs) and three-dimensional (3D) neural organoid models. The GJB1 gene encodes connexin 32 (Cx32), a gap junction protein. Immunofluorescent analysis revealed aberrant intracellular reduction and aggregation of the mutant Cx32 protein, suggesting impaired gap junction function. iPSC-derived neural organoids carrying the GJB1 mutation exhibited significant delay in neural differentiation and disrupted neural rosette organization. These findings underscore the critical role of Cx32 in neural development and provide a physiologically relevant platform for underlying CMTX1 pathological mechanisms on central nervous system. The established GJB1-variant organoid model holds promise for investigating genotype-phenotype correlations and facilitating the development of targeted therapeutic strategies for CMTX1. - Source: PubMed
Publication date: 2026/01/31
Guo JianyingLee QianhuiQiu HuiWei YuanZhu XiaohuiYan LiyingNa Jie - Hereditary polyneuropathies represent a genetically and clinically heterogeneous group of disorders affecting the peripheral nervous system, characterized by progressive motor, sensory, and autonomic impairment. Advances in molecular genetics have identified key causative genes, including , , , , , and , which are implicated in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and related neuropathies. These conditions display substantial allelic and locus heterogeneity. Pathogenetically, mechanisms involve impaired myelin maintenance, disrupted axonal transport, mitochondrial dysfunction, and aberrant Schwann cell biology. Despite these insights, therapeutic options remain limited, and there is a pressing need to translate genetic findings into effective interventions. This review aims to provide a comprehensive synthesis of current knowledge compiling all known mutations resulting in hereditary polyneuropathies. In addition, it underscores the molecular pathomechanisms of hereditary polyneuropathies and evaluates emerging therapeutic strategies, including adeno-associated virus mediated RNA interference, CRISPR-based gene editing, antisense oligonucleotide therapy, and small-molecule modulators of axonal degeneration. Furthermore, the integration of precision diagnostics, such as next-generation sequencing and functional genomic approaches, is discussed in the context of personalized disease management. Collectively, this review underscores the need for patient-centered approaches in advancing care for individuals with hereditary polyneuropathies. - Source: PubMed
Publication date: 2026/01/03
Chrysostomaki MariaChatzi DespoinaKyriakoudi Stella AikateriniMeditskou SoultanaManthou Maria EleniGargani SofiaTheotokis PaschalisDermitzakis Iasonas - Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy that may present with sensorineural hearing loss (SNHL) or auditory neuropathy spectrum disorder (ANSD). Cochlear implants (CIs) have been used to rehabilitate hearing loss in CMT, but their effectiveness remains poorly understood due to the central and peripheral neurological complexities of the disease. - Source: PubMed
Publication date: 2026/01/20
Hughes Sarah EMehta Anahita HStucken Emily Z