nteraction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Two transcript variants encoding different isoforms have been found for this gene.
Pathway
Rho GTPase cycle, organism-specific biosystem; Signal Transduction, organism-specific biosystem; Signaling by Rho GTPases, organism-specific biosystem; Signaling events mediated by focal adhesion kinase, organism-specific biosystem;
Citations
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