Gap junction protein, alpha 1

Gap junction protein, alpha 1 (also known as GJA1 or connexin 43) is a protein that in humans is encoded by the GJA1 gene. It is a member of the connexin family of proteins, which are crucial components of gap junctions.

Function

GJA1 is a protein that forms gap junctions, which are intercellular channels that allow for communication between cells. These channels permit the direct transfer of small molecules and ions, facilitating coordinated responses in connected cells. GJA1 is the most widely expressed connexin in the human body and plays a vital role in numerous physiological processes, including cell differentiation, growth control, and tissue homeostasis.

Structure

The GJA1 protein is composed of four transmembrane domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini. The protein assembles into a hexameric structure known as a connexon, which can dock with connexons in adjacent cells to form a gap junction channel.

Clinical significance

Mutations in the GJA1 gene can lead to several diseases, including oculodentodigital dysplasia and palmoplantar keratoderma. In addition, altered expression or function of GJA1 has been implicated in various pathological conditions, such as cancer, cardiac disease, and neurological disorders.

See also

• Connexin
• Gap junction
• Oculodentodigital dysplasia
• Palmoplantar keratoderma

References

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