Structural highlights
Disease
CD3Z_HUMAN Defects in CD247 are the cause of immunodeficiency due to defect in CD3-zeta (CD3ZID) [MIM:610163. An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens.[1]
Function
CD3Z_HUMAN Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering.
References
- ↑ Rieux-Laucat F, Hivroz C, Lim A, Mateo V, Pellier I, Selz F, Fischer A, Le Deist F. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006 May 4;354(18):1913-21. PMID:16672702 doi:354/18/1913
