kindlin3

Kindlin3, also known as FERMT3, is a protein encoded by the FERMT3 gene in humans. It belongs to the kindlin family of focal adhesion proteins, which also includes Kindlin1 and Kindlin2. These proteins are crucial for the activation of integrins, a major class of cell-surface adhesion receptors.

Kindlin3 is primarily expressed in hematopoietic cells, such as platelets and leukocytes. Its primary function is to regulate integrin activation, a process essential for proper blood clotting and immune response. By binding to integrins, Kindlin3 helps transmit signals from inside the cell to the outside, allowing cells to change shape, adhere to surfaces, and migrate.

Mutations in the FERMT3 gene lead to a rare autosomal recessive disorder called Leukocyte Adhesion Deficiency type III (LAD-III). This severe condition is characterized by a bleeding tendency similar to Glanzmann thrombasthenia and recurrent infections due to impaired leukocyte migration. Patients with LAD-III suffer from excessive bleeding from minor injuries and are highly susceptible to bacterial infections.

Research on Kindlin3 is vital for understanding cell adhesion mechanisms and developing potential therapies for LAD-III. Its role extends beyond blood cells, with studies suggesting involvement in cancer cell metastasis.