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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 Name: | DiGeorge syndrome critical region gene 2 |
Synonyms: | DGCR2, DGS-C, IDD, LAN, SEZ-12, KIAA0163 |
Target Sequences: | NM_005137 NP_005128.1 P98153 |
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