DOCK6 gene encodes a protein known as a guanine nucleotide exchange factor (GEF), a member of the dedicator of cytokinesis (DOCK) family. GEF proteins activate proteins called GTPases, which play an important role in chemical signaling within cells. The DOCK6 protein specifically activates Cdc42 and Rac1 GTPases by exchanging GTP for the attached GDP. Cdc42 and Rac1 play a critical role in actin cytoskeletal reorganization. The DOCK6 protein regulates these GTPases during development of the limbs, skull, and heart. DOCK6 protein also plays a role in the development of axons.
Defects in this protein have been associated with Adams-Oliver syndrome, a condition characterized by aplasia cutis congenita, usually on the scalp, and malformations of the hands and feet.