Wednesday 23 February 2011
Definition: Defective expression of p56lck in an infant with severe combined immunodeficiency. [PubMed: #9664084#]
The LCK gene encodes p56(LCK), a nonreceptor protein-tyrosine kinase of the SRC (MIM.190090) oncogene family that is involved in transduction of T-cell receptor (TCR; MIM.186880)-mediated activation.
The p56(LCK) protein is anchored to the plasma membrane and interacts with the intracellular domains of CD4 (MIM.186940)/CD8 (MIM.186910) coreceptors.
It is composed of 4 SRC homology (SH) domains that are variably conserved among members of the SRC family (Germani et al., 2003).
Goldman, F. D., Ballas, Z. K., Schutte, B. C., Kemp, J., Hollenback, C., Noraz, N., Taylor, N. Defective expression of p56lck in an infant with severe combined immunodeficiency. J. Clin. Invest. 102: 421-429, 1998. [PubMed: #9664084#]
Burnett, R. C., Thirman, M. J., Rowley, J. D., Diaz, M. O. Molecular analysis of the T-cell acute lymphoblastic leukemia-associated t(1;7)(p34;q34) that fuses LCK and TCRB. Blood 84: 1232-1236, 1994. [PubMed: #8049439#]
Burnett, R. C., David, J.-C., Harden, A. M., Le Beau, M. M., Rowley, J. D., Diaz, M. O. The LCK gene is involved in the t(1;7)(p34;q34) in the T-cell acute lymphoblastic leukemia derived cell line, HSB-2. Genes Chromosomes Cancer 3: 461-467, 1991. [PubMed: #1663780#]