GENETIC ENCYCLOPEDIA
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gene: ITGB2

id3689
symbolITGB2
organismHomo sapiens
full nameintegrin subunit beta 2
summaryThis 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]
variant-disease

NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) AND Leukocyte adhesion deficiency

ITGB2, IVS?AS, -12, 12-BP INS AND Leukocyte adhesion deficiency

NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) AND Leukocyte adhesion deficiency

NM_000211.5(ITGB2):c.1062= (p.His354=) AND Leukocyte adhesion deficiency type 1

NM_000211.5(ITGB2):c.24G>T (p.Leu8=) AND Leukocyte adhesion deficiency type 1

... 294 more


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