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.
应用类型
WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 21-200 of human DGCR2 (NP_005128.1).
