ITGB2


ITGB2

A gene on chromosome 21q22.3 that encodes an integrin beta chain family protein (integrins are noncovalently associated transmembrane glycoprotein receptors, composed one of 18 different alpha and one of 8 different beta chains). The beta chain encoded by ITGB2 can combine with multiple alpha partners to give rise to different integrins—e.g., with the alpha L chain to form the integrin LFA-1, or with the alpha M chain to form the integrin Mac-1. Integrins participate in cell adhesion as well as cell surface-mediated signalling.
Molecular pathology
ITGB2 mutations cause leukocyte adhesion deficiency type I.