CD247

Description

The CD247 gene, also known as the zeta chain of the T cell receptor (TCRζ), plays a critical role in the immune system. It encodes a protein that forms part of the TCR complex, which is responsible for recognizing and responding to foreign antigens presented by antigen-presenting cells. This interaction triggers a cascade of intracellular signaling events that ultimately lead to T cell activation, proliferation, and differentiation into effector cells that can eliminate pathogens. CD247 mutations can disrupt this signaling pathway, leading to impaired immune responses and increased susceptibility to infections.

Associated Diseases

• Severe Combined Immunodeficiency (SCID)
• Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX)
• Autoimmune disorders

Did you know?

Mutations in the CD247 gene can cause a rare immune deficiency called 'Bare Lymphocyte Syndrome' where T cells lack the TCRζ chain and are unable to respond to antigens.