The GJA1 gene provides instructions for making a protein called gap junction alpha-1 protein. Because this protein is one of a large family of connexin proteins, it is commonly called connexin 43. Connexins play a role in cell-to-cell communication by forming channels, or gap junctions, on the surface of cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin 43 is important for the normal development and function of cells in many different tissues of the body, including the eyes, skin, bone, ears, and brain. Connexin 43 is also thought to play a role in coordinating muscle cell contractions, which helps the heart pump blood effectively.
Other Names
connexin 43; CX43; Cx43α1; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like
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Identifiers
- NCBI Gene: 2697
- OMIM: 121014
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
