ITGB2

Chr 21

integrin subunit beta 2

Also known as: CD18, LAD, LCAMB, LFA-1, MAC-1, MF17, MFI7

NCBI Gene: 3689 ENSG00000160255 UniProt: P05107

The ITGB2 protein forms integrin heterodimers that function as cell surface receptors mediating leukocyte adhesion, transmigration, and immune cell interactions with various ligands including ICAM proteins and complement fragments. Mutations cause leukocyte adhesion deficiency, an autosomal recessive primary immunodeficiency affecting the immune system's ability to mount effective responses to infections. The gene is highly intolerant to loss-of-function variants, reflecting its critical role in immune function.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…