ZAP70

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]

Description

zeta-chain (TCR) associated protein kinase 70kDa

Protein family

Enzymes, Kinases, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, SH2-domain containing proteins

Chromosome

2:q11.2 (98330023 - 98356325)

Ensembl ID

ENSG00000115085  (ver. 71.37)

Orthologs

Mouse Zap70: ENSMUSG00000026117

Human splice variants
Mouse splice variants