Aliases for FERMT3 Gene
External Ids for FERMT3 Gene
Previous GeneCards Identifiers for FERMT3 Gene
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]
GeneCards Summary for FERMT3 Gene
FERMT3 (FERM Domain Containing Kindlin 3) is a Protein Coding gene. Diseases associated with FERMT3 include Leukocyte Adhesion Deficiency, Type Iii and Leukocyte Adhesion Deficiency, Type I. Among its related pathways are Adhesion and Platelet activation. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is FERMT1.
UniProtKB/Swiss-Prot Summary for FERMT3 Gene
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).
Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.