Immunogen sequence: RFSRKCPTGW HHYEGTASCY RVYLSGENYW DAAQTCQRLN GSLATFSTDQ ELRFVLAQEW DQPERSFGWK DQRKLWVGYQ YVITGRNRSL EGRWEVAFKG SSEVFLPPDP IFASAMSEND NVFCAQLQCF HFPTLRHHDL HSWHAESCYE KSSFLCKRSQ TCVDIKDNVV DEGFYFTPK
Highest antigen sequence identity to the following orthologs: Mouse - 97%, Rat - 97%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DiGeorge syndrome critical region protein 2; integral membrane protein deleted in DiGeorge syndrome; Integral membrane protein DGCR2/IDD
Gene Aliases: DGCR2; DGS-C; IDD; KIAA0163; LAN; SEZ-12
UniProt ID: (Human) P98153
Entrez Gene ID: (Human) 9993
Molecular Function: apolipoprotein