FERMT3

Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]

Full Name

Fermitin Family Member 3

Research Area

Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933).

Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity).

Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460).

Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).

Biological Process

Cell-matrix adhesion Source: GO_Central
Integrin activation Source: UniProtKB
Integrin-mediated signaling pathway Source: UniProtKB
Leukocyte cell-cell adhesion Source: UniProtKB
Platelet aggregation Source: UniProtKB
Positive regulation of cell migration Source: UniProtKB
Regulation of cell-cell adhesion mediated by integrin Source: UniProtKB
Substrate adhesion-dependent cell spreading Source: UniProtKB

Cellular Location

Podosome. Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells.

Involvement in disease

Leukocyte adhesion deficiency 3 (LAD3):
A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.