GJA1Cx43

GJA1Cx43 refers to a specific isoform of the Connexin 43 protein. Connexins are a family of proteins that form gap junctions, which are channels that connect the cytoplasm of adjacent cells. These gap junctions allow for the direct passage of small molecules and ions, facilitating intercellular communication. Connexin 43 (Cx43) is the most widely expressed connexin in the human body and plays crucial roles in various tissues, including the heart, brain, and skin.

The GJA1 gene encodes the Cx43 protein. Alternative splicing of the GJA1 gene can produce different mRNA transcripts, which in turn can lead to the synthesis of various Cx43 isoforms. GJA1Cx43 is one such isoform, distinguished by specific structural or functional characteristics compared to the canonical Cx43 protein. Research into these isoforms aims to understand their unique contributions to cellular function and their potential involvement in disease states.

While the standard Cx43 protein is well-characterized for its role in electrical coupling in the heart and the formation of bone, the specific functions of GJA1Cx43 are an active area of investigation. Studies may explore how this particular isoform affects gap junction permeability, its localization within the cell, or its interactions with other proteins. Understanding the distinct properties of GJA1Cx43 is important for a comprehensive understanding of gap junction physiology and pathology, potentially offering insights into therapeutic targets for conditions linked to connexin dysfunction.