菜单 基因医生

这个基因编码一个整合素β链,它与多个不同的α链结合形成不同的整合素异二聚体。整合素是参与细胞粘附和细胞表面介导的信号传导的完整的细胞表面蛋白编码蛋白在免疫应答中起重要作用,该基因缺陷导致白细胞粘附缺陷。选择性剪接导致多个转录变体[由RefSeq提供,2014年12月]
This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

基因名:ITGB2
别名:LAD,CD18,MF17,MFI7,LCAMB,LFA-1,MAC-1
基因ID:3689
Chromosome:
(GRCh37)
21 Start: 46305864 End: 46348753 Strand: 
信号通路:  
ITGB2 基因突变与药物