DGCR2
Description
The DGCR2 (DiGeorge syndrome critical region gene 2) is a protein-coding gene located on chromosome 22.
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans. Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.
DGCR2 is also known as DGS-C, IDD, LAN, SEZ-12.
