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DGCR14
DiGeorge syndrome critical region gene 14
DGCR14 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.
| Gene Name: | DiGeorge syndrome critical region gene 14 |
| Synonyms: | DGCR14, DGSH, DGSI, DGCR13, DGS-H, DiGeorge syndrome gene H, DiGeorge syndrome protein H, ES2, Es2el, Protein ES2, DGS-I, DiGeorge syndrome gene I, Protein DGCR13, Protein DGCR14 |
| Target Sequences: | NM_022719 NP_073210.1 Q96DF8 |
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