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],
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Function:
Domain:The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.,Function:Probably involved in cell adhesion.,similarity:Belongs to the kindlin family.,similarity:Contains 1 FERM domain.,similarity:Contains 1 PH domain.,subcellular location:Membrane-associated in chronic lymphocytic leukemia (CLL) cells.,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.,
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Cellular Localization:
Cell projection, podosome . Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells. .
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Tissue Expression:
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.