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DGCR2
Protein-coding gene in the species Homo sapiens

The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans.

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. DGCR2 is thought to interact with the Reelin complex to regulate corticogenesis.

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Further reading

References

  1. Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship J, Burn J (Oct 1995). "Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome". Hum Mol Genet. 4 (6): 1027–1033. doi:10.1093/hmg/4.6.1027. PMID 7655455. /wiki/Doi_(identifier)

  2. Kajiwara K, Nagasawa H, Shimizu-Nishikawa K, Ookura T, Kimura M, Sugaya E (Jun 1996). "Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein". Biochem Biophys Res Commun. 222 (1): 144–148. doi:10.1006/bbrc.1996.0712. PMID 8630060. /wiki/Doi_(identifier)

  3. "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9993

  4. "Entrez Gene: DGCR2 DiGeorge syndrome critical region gene 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9993

  5. Molinard-Chenu, Aude; Dayer, Alexandre (April 2018). "The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis". Biological Psychiatry. 83 (8): 692–706. doi:10.1016/j.biopsych.2017.11.015. PMID 29305086. https://access.archive-ouverte.unige.ch/access/metadata/4db14e8b-1d9c-4a99-8a8d-398da9c400fb/download