DGCR2 Products

Description

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. [provided by RefSeq]

Bioinformatics

Entrez	9993 Human
Uniprot	NM_005137 Human NP_005128.1 Human P98153 Human
Product By Gene ID	9993
Alternate Names	DGS-C DiGeorge syndrome critical region gene 2 IDDDKFZp686I1730 integral membrane protein deleted in DiGeorge syndrome integral membrane protein DGCR2/IDD KIAA0163DiGeorge syndrome critical region protein 2 LAN SEZ-12