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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: DiGeorge syndrome critical region protein 2; integral membrane protein deleted in DiGeorge syndrome; Integral membrane protein DGCR2/IDD
基因别名: DGCR2; DGS-C; IDD; KIAA0163; LAN; SEZ-12
UniProt ID: (Human) P98153
Entrez Gene ID: (Human) 9993
分子生物学功能: apolipoprotein