CD3D
CD3D
The CD3D gene, also known as CD3 delta, is a protein-coding gene located on the 11th chromosome in humans. It is a part of the CD3 complex, which plays a crucial role in the immune system by aiding in the activation and survival of T cells.
Function
The CD3D gene encodes the delta subunit of the CD3 complex. This complex is composed of four distinct polypeptide chains (gamma, delta, epsilon, and zeta), which are encoded by separate genes. The CD3 complex is a critical component of the T cell receptor (TCR) complex, which is responsible for transducing signals from the TCR into the interior of the T cell. This process is essential for T cell activation and function.
Clinical Significance
Mutations in the CD3D gene can lead to severe immune deficiency disorders. For example, a rare autosomal recessive disorder known as CD3 delta deficiency is caused by mutations in this gene. This condition is characterized by recurrent infections, autoimmunity, and an increased susceptibility to cancer.
Research
Research into the CD3D gene and its associated proteins has potential implications for the treatment of various diseases, including autoimmune diseases, cancer, and infectious diseases. For instance, therapies that target the CD3 complex could potentially enhance the body's immune response to cancer cells.
See Also
References
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