人 ITGB2 (NM_000211) cDNA克隆

The product of this gene belongs to the integrin beta chain family of proteins. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin beta chain beta 2. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Defects in this gene are the cause of leukocyte adhesion deficiency type I (LAD1). Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]