DOCK8

DOCK8 encodes dedicator of cytokinesis 8, a guanine nucleotide exchange factor (GEF) primarily activating Cdc42 and Rac1 GTPases. It plays critical roles in regulating actin cytoskeleton dynamics, lymphocyte migration, and immune synapse formation. DOCK8 deficiency impairs dendritic cell maturation and T/B cell function, leading to combined immunodeficiency.
Common aliases include MOCA and ZIR2. The protein参与 PI3K-Akt and JAK-STAT signaling pathways. Mutations cause DOCK8 immunodeficiency syndrome, characterized by recurrent infections and increased cancer risk. No specific drugs targeting DOCK8 are approved, but gene therapy and small-molecule GEF activators are under preclinical investigation.