Background
The protein encoded by this gene belongs to the CDM protein family. It is specifically
expressed in hematopoietic cells and is predominantly expressed in peripheral blood
leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for
lymphocyte migration in response to chemokine signaling. It activates members of the Rho
family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange
factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in
immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell
number and function, also with variable defects in B cell and NK cell function.
