ITGAM Chromosome 16

Integrin subunit alpha M
7 variants 7 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Integrin alpha subunits|Complement system regulators and receptors|Human neutrophil antigens"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000169896
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS1040429279 Health Risk Conflicting classifications of pathogenicity —
RS1216278486 Health Risk Conflicting classifications of pathogenicity —
RS1358535597 Health Risk Conflicting classifications of pathogenicity —
RS371261558 Health Risk Conflicting classifications of pathogenicity —
RS372291727 Health Risk Conflicting classifications of pathogenicity —
RS373322978 Health Risk Conflicting classifications of pathogenicity —
RS868551614 Health Risk Conflicting classifications of pathogenicity —
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