DiGeorge Syndrome Critical Region Gene 14 (DGCR14)

DGCR14 is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2.

The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus.The proximal and distal boundaries of the smallest region of deletion overlap (SRDO, approximately 300 to 400 kb) had been defined based on breakpoint mapping data from patients with DGS/VCFS.