GJB2 Specific Neutra™ Antibody Products

Are you struggling with prolonged drug development timelines or inconsistent functional validation of gap junction targets? Creative Biolabs' GJB2-specific Neutra™ antibody products leverage advanced epitope mapping and high-throughput validation platforms to overcome these challenges, enabling precise targeting of GJB2 for accelerating therapeutic discovery and diagnostic innovation.

Introduction to GJB2

GJB2 gene encodes connexin 26 (Cx26), a 26-kDa protein comprising four transmembrane domains, two extracellular loops, and cytoplasmic N- and C-termini. It is highly expressed in the inner ear, where it regulates potassium ion recycling necessary for auditory function. Mutations in GJB2 are the most common genetic cause of non-syndromic hearing loss, accounting for ~50% of cases globally.

• Structural Insights

GJB2 oligomerizes into hexameric connexons, which dock with adjacent cellular connexons to form gap junction channels. These channels permit the exchange of ions, metabolites, and signaling molecules (≤1 kDa). The extracellular loops mediate connexon docking, while transmembrane domains govern channel gating. Cryo-EM studies reveal that missense mutations (e.g., p.V37I, p.M34T) disrupt loop interactions, impairing channel assembly or permeability.

• Related Signaling Pathways

GJB2-mediated intercellular communication influences:

- Cochlear potassium recycling: Critical for hair cell depolarization and auditory signal transduction.

- Skin barrier homeostasis: Facilitates nutrient transfer in keratinocytes.

- Inflammatory modulation: Regulates ATP release in wound healing and immune responses.

• Associated Pathologies

Over 300 GJB2 gene mutations are linked to sensorineural hearing loss, ranging from mild to profound. Recessive mutations (e.g., c.35delG, c.167delT) typically cause prelingual deafness, while dominant variants (e.g., p.R75W) may result in progressive hearing impairment or syndromic conditions like keratitis-ichthyosis-deafness (KID) syndrome.

Fig.1 Association between GJB2 missense variants with clinical phenotypes.¹

Applications of Anti-GJB2 Neutralizing Antibodies

• Advancing Diagnostics for Hereditary Hearing Loss

Anti-GJB2 antibodies enable rapid detection of connexin 26 expression levels in clinical biopsies, improving genetic screening accuracy. They differentiate between wild-type and mutant protein localization, aiding in genotype-phenotype correlations for personalized management.

• Targeted Therapy Development

By blocking aberrant hemichannel activity in GJB2-related KID syndrome, neutralizing antibodies reduce pro-inflammatory ATP release and cutaneous lesions. Preclinical studies demonstrate their efficacy in restoring epidermal integrity and mitigating chronic inflammation.

• Mechanistic Studies of Gap Junction Dysregulation

Researchers utilize these antibodies to map connexon assembly dynamics in cochlear organoids or 3D keratinocyte models. Competitive inhibition assays reveal how mutations disrupt intercellular communication, informing drug design to restore channel function.

• Biomarker Validation for Therapeutic Monitoring

Quantify GJB2 levels in serum or perilymph samples using ELISA-based platforms. This supports clinical trials by tracking target engagement in novel gene therapies or small-molecule correctors.

Our Anti-GJB2 Antibodies

Creative Biolabs' Anti-GJB2 Neutralizing Antibodies are engineered for exceptional specificity and affinity, validated across applications including immunohistochemistry (IHC), Western blotting, and functional inhibition assays. Key features include:

- Epitope-specific targeting: Antibodies recognize extracellular loops or cytoplasmic domains to block channel assembly or function.

- Therapeutic potential: Neutralizing antibodies inhibit pathological hemichannel activity in GJB2-linked inflammatory disorders.

- Diagnostic utility: Detect mutant Cx26 expression in patient-derived tissues to stratify hearing loss subtypes.

Creative Biolabs' GJB2-specific Neutra™ antibody products empower researchers and clinicians to decode the complexities of connexin-related disorders with unparalleled precision. Our antibodies are rigorously validated for reproducibility across translational workflows, from basic research to therapeutic development.

Contact our team today to explore custom solutions for your GJB2-focused projects.

REFERENCE

1. Mao, Lu, et al. "Molecular mechanisms and clinical phenotypes of GJB2 missense variants." Biology 12.4 (2023): 505. Distributed under Open Access license CC BY 4.0, without modification. https://doi.org/10.3390/biology12040505