Fermitin Family Homolog 3 (FERMT3) ELISA Kit for Human

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]

kindlin-3: Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs). Defects in FERMT3 are the cause of leukocyte adhesion deficiency type 3 (LAD3); also called leukocyte adhesion deficiency 1 variant (LAD1v). LAD3 is a rare syndrome characterized by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting from a hematopoietic defect in integrin activation. Symptoms arise from an inability to activate the integrins expressed on hematopoietic cells, including platelets and leukocytes. Belongs to the kindlin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion

Chromosomal Location of Human Ortholog: 11q13.1

Cellular Component: cell junction; cell projection; membrane; podosome

Molecular Function: integrin binding

Biological Process: integrin activation; integrin-mediated signaling pathway; leukocyte adhesion; positive regulation of cell migration; regulation of cell-cell adhesion mediated by integrin

Disease: Leukocyte Adhesion Deficiency, Type Iii