ITGAM

Chr 16

integrin subunit alpha M

Also known as: CD11B, CR3A, HNA-4, MAC-1, MAC1A, MO1A, SLEB6

NCBI Gene: 3684 ENSG00000169896 UniProt: P11215 OMIM: 120980

The integrin alpha M chain combines with integrin beta 2 to form a leukocyte receptor essential for neutrophil and monocyte adhesion to endothelium, phagocytosis of complement-coated particles, and neutrophil migration. Mutations cause leukocyte adhesion deficiency type 1, an autosomal recessive primary immunodeficiency characterized by recurrent severe bacterial infections, delayed wound healing, and absence of pus formation due to impaired neutrophil function. The gene shows high tolerance to loss-of-function variants, consistent with the recessive inheritance pattern where biallelic mutations are required for disease.

OMIM ResearchSummary from RefSeq, UniProt

This 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]

OMIM ResearchGenerating clinical summary…