Gap junction protein beta 4 (GJB4)

Gap junction protein beta 4 (GJB4, also known as Connexin 30.3) is a member of the connexin family of gap junction proteins that form channels (gap junctions) on cell surfaces, permitting direct transfer of ions, metabolites, and signaling molecules between neighboring cells[1][2][3]. This protein is found in several tissues, including the epidermis and heart, and plays an essential role in epidermal cell growth and maturation as well as in cardiac gap junction remodeling under disease conditions[1][2][3]. Mutations in GJB4 can cause the skin disorder erythrokeratodermia variabilis et progressiva (EKVP), and abnormal expression has been observed in diseased cardiac tissue, suggesting a role in hypertrophic cardiomyopathy and arrhythmogenesis[1][2][3]. No approved drugs are currently known to target GJB4 directly, and it is not commonly used as a biomarker in clinical practice[2][3]. Safety concerns are mainly associated with pathogenic mutations causing skin or, more rarely, heart disease.

Other names

Connexin 30.3Cx30.3gap junction beta-4 proteinconnexin-30.3CX30.3EKVEKVP2gap junction protein, beta 4, 30.3kDaCXB4_HUMAN