Scientific background: |
ITGB2(INTEGRIN, BETA-2), also known as CD18, is a protein that in humans is encoded by the ITGB2 gene. ITGB2 is an integrin protein that belongs to the class of cell membrane glycoproteins. The beta-2 integrin chain gene is designated ITGB2 and the leukocyte antigen has been designated CD18. The ITGB2 gene is mapped to 21q22.3. The expression of CD18 is increased in lymphoblastoid cells from persons with Down syndrome, consistent with the location of the gene on chromosome 21. In humans lack of ITGB2 causes Leukocyte Adhesion Deficiency, a disease defined by a lack of leukocyte extravasation from blood into tissues. Although ITGB2 is expressed on the cell surface at normal levels and is capable of function following extracellular stimulation, it could not be activated via the 'inside-out' signaling pathways. |
References: |
1. Abramson, J. S., Mills, E. L., Sawyer, M. K., Regelmann, W. R., Nelson, J. D., Quie, P. G. Recurrent infections and delayed separation of the umbilical cord in an infant with abnormal phagocytic cell locomotion and oxidative response during particle phagocytosis. J. Pediat. 99: 887-894, 1981.
2. Akao, Y., Utsumi, K. R., Naito, K., Ueda, R., Takahashi, T., Yamada, K. Chromosomal assignments of genes coding for human leukocyte common antigen, T-200, and lymphocyte function-associated antigen 1, LFA-1 beta subunit. Somat. Cell Molec. Genet. 13: 273-278, 1987.
3. "Entrez Gene: ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)".
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