ITGB2(redirected from OTTHUMP00000115278)
ITGB2A 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.
ITGB2 mutations cause leukocyte adhesion deficiency type I.
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