DGCR2 ( Eng. DiGeorge syndrome critical region gene 2 ) is a human protein related to type C lectins and encoded by a gene located in the 22q11 region. Mutations in this region are associated with a number of developmental disabilities, combined under the acronym CATCH 22 .
| DGCR2 | |
|---|---|
| Designations | |
| Characters | DGCR2 ; KIAA0163, LAN, IDD, DGS-C, SEZ-12 |
| Entrez gene | 9993 |
| Hgnc | 2845 |
| Omim | 600594 |
| Refseq | NM_005137 |
| Uniprot | P98153 |
| Other data | |
| Locus | 22nd hr , 22q11.21 |
Presumably, the DGCR2 gene product is an adhesion receptor that plays a role in neural crest cell migration.
Medical Importance
Deletion of gene regions is noted in 22q11 deletion syndrome ( Di George syndrome ). [1] A possible association of gene variations with a risk of schizophrenia is noted. [2] [3]
Notes
- ↑ Demczuk S., Aledo R., Zucman J., et al. Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. (Eng.) // Human Molecular Genetics : journal. - Oxford University Press , 1995. - Vol. 4 , no. 4 . - P. 551–558 . - PMID 7633403 .
- ↑ Shifman S., Levit A., Chen ML, et al. A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia. (Eng.) // Human Genetics : journal. - 2007. - Vol. 120 , no. 2 . - P. 160-170 . - DOI : 10.1007 / s00439-006-0195-0 . - PMID 16783572 .
- ↑ Gene Overview of All Published Schizophrenia-Association Studies for DGCR2 (unavailable link) - Schizophrenia Research Forum , SzGene Database.