Gene Symbol | ZAP70 |
Entrez Gene ID | 7535 |
Full Name | zeta chain of T cell receptor associated protein kinase 70 |
Synonyms | ADMIO2,IMD48,SRK,STCD,STD,TZK,ZAP-70 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3); Immunodeficiency 48, 269840 (3) |