DGS8, also designated DiGeorge syndrome critical region 8 protein, plays a role in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS). It is a ubiquitously expressed protein encoded by the gene DGCR8, which is deleted in DiGeorge syndrome. DiGeorge syndrome is characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. In mouse, DGS8 is detected primarily in embryonic brain, vessels, thymus and palate.
