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LCK deficiency

Wednesday 23 February 2011

Definition: Defective expression of p56lck in an infant with severe combined immunodeficiency. [PubMed: #9664084#]

LCK

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).

References

- 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#]