GJA1 is a gene located on chromosome 13 that encodes a protein involved in the formation of gap junctions. These structures allow for direct communication between adjacent cells, facilitating the transfer of ions and small molecules. This process is crucial for various physiological functions, including cardiac and neuronal signaling. Mutations in the GJA1 gene can lead to several health issues, particularly affecting the heart and skin. One notable condition associated with GJA1 mutations is Connexin 43 deficiency, which can result in cardiac arrhythmias and skin disorders. Understanding GJA1 is important for studying these conditions and developing potential treatments.