Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.[4][5][6]
AliasesESS2, DGCR13, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el, DGCR14, DiGeorge syndrome critical region gene 14, bis1, ESS-2, ess-2 splicing factor homolog Quick facts ESS2, Identifiers ...
| ESS2 |
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| Aliases | ESS2, DGCR13, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el, DGCR14, DiGeorge syndrome critical region gene 14, bis1, ESS-2, ess-2 splicing factor homolog |
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| External IDs | OMIM: 601755; MGI: 107854; GeneCards: ESS2 |
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This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus.[6]
