Gene: DGCR2

Alternate names for this Gene: DGS-C|IDD|LAN|SEZ-12

Gene Summary: 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. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: DiGeorge syndrome critical region gene 2

Type of Gene: protein-coding