FERMT3 Antibody – Rabbit Polyclonal

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]

Function: 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)

By similarity. Ref.5 Ref.9 Ref.10 Ref.11Isoform 2 may act as a repressor of NF-kappa-B and apoptosis. Ref.5 Ref.9 Ref.10 Ref.11

Subunit structure: Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails)

By similarity.

Subcellular location: Cell projection › podosome

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

By similarity. Ref.4

Tissue specificity: Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies. Ref.1 Ref.4

Domain: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.

Involvement in disease: Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840]: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.9 Ref.10 Ref.11

Sequence similarities: Belongs to the kindlin family.Contains 1 FERM domain.Contains 1 PH domain.