DiGeorge Syndrome Critical Region Gene 2 (DGCR2)

Deletions of the 22q11.2 have been associated with a wide range of developmental 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.The DGCR2 gene encodes a deduced 550-amino acid protein that includes a 24-residue signal peptide and a mature protein of 526 residues. The protein contains a putative transmembrane domain and its N-terminal region shows similarities to the cys-rich repeat region of the low density lipoprotein receptor and to C-type lectin domains, indicating that it is a potential adhesion receptor. Northern blot analysis of fetal and adult tissues showed ubiquitous expression of a 4.4-kb transcript.