GENETIC ENCYCLOPEDIA
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gene: ITGAM

id3684
symbolITGAM
organismHomo sapiens
full nameintegrin subunit alpha M
summaryThis gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
variant-disease

NM_000632.3(ITGAM):c.2999C>A (p.Thr1000Asn) AND not specified

GRCh37/hg19 16p11.2(chr16:31306417-31331958)x1 AND not provided

NM_000632.3(ITGAM):c.1141T>C (p.Tyr381His) AND not provided

GRCh37/hg19 16p11.2(chr16:31343812-31405543)x3 AND See cases

GRCh37/hg19 16p11.2(chr16:31198100-31407832)x3 AND See cases

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