Synonyms:DGCR2, DGS-C, DiGeorge syndrome critical region gene 2, ENTREZ:9993, HGNC:2845, IDD, LAN, MIM:600594, NM_001173533, NM_001173534, NM_001184781, NM_005137, NP_001167004, NP_001167005, NP_001171710, NP_005128, NR_033674, SEZ-12, XR_001755405, XR_001755406
Omim:OMIM:600594
Id:1847ad85-d40c-59ff-9775-c34c2faf1886
Hgnc:HGNC:2845
Description:DiGeorge syndrome critical region gene 2
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.[provided by RefSeq, May 2010]