The TMEM43 (Transmembrane Protein 43) antibody is a tool used to study the TMEM43 protein, a member of the transmembrane protein family with unclear structural and functional details. TMEM43 is ubiquitously expressed, localized to the nuclear membrane and endoplasmic reticulum, and implicated in maintaining nuclear envelope integrity, cell adhesion, and signaling. Research highlights its role in diseases, particularly arrhythmogenic cardiomyopathy (ACM), a hereditary disorder causing ventricular arrhythmias and myocardial fibrosis. Mutations in the TMEM43 gene, especially the pathogenic p.Ser358Leu variant, are strongly linked to ACM.
TMEM43 antibodies enable detection and analysis of the protein’s expression, localization, and interactions. These antibodies are critical for elucidating TMEM43’s mechanistic role in disease pathogenesis, including its potential involvement in adipogenesis, ion channel regulation, and nuclear membrane stability. Studies using TMEM43 antibodies have revealed altered protein expression in cardiac tissues of ACM patients, supporting its clinical relevance. However, the exact molecular pathways remain under investigation.
Commercially available TMEM43 antibodies (polyclonal or monoclonal) are validated for techniques like Western blotting, immunohistochemistry, and immunofluorescence. Their application advances understanding of TMEM43’s biological functions and its association with cardiac disorders, aiding diagnostic and therapeutic research. Despite progress, challenges persist in standardizing antibody specificity and interpreting conflicting data across studies, emphasizing the need for further validation.