CD3D
Description
The CD3D gene encodes a protein that is a critical subunit of the T cell receptor (TCR) complex, a complex of proteins essential for the adaptive immune response. TCRs are expressed on the surface of T lymphocytes and recognize specific antigens presented by antigen-presenting cells. The CD3D protein plays a vital role in signal transduction downstream of TCR activation, triggering a cascade of events that ultimately lead to T cell activation, proliferation, and differentiation. Variations in the CD3D gene can affect the function of the TCR complex and contribute to immune dysfunction.
Associated Diseases
- Severe Combined Immunodeficiency (SCID)
- Immunodeficiency with Hyper IgM Syndrome (HIGM)
- Autoimmune Disorders
- Allergies
- Cancer
Did you know?
Mutations in the CD3D gene are responsible for a rare form of SCID, a life-threatening condition characterized by an absence of functional T cells.
