Aliases for DGCR14 Gene
External Ids for DGCR14 Gene
Previous HGNC Symbols for DGCR14 Gene
Previous GeneCards Identifiers for DGCR14 Gene
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
GeneCards Summary for DGCR14 Gene
DGCR14 (DiGeorge Syndrome Critical Region Gene 14) is a Protein Coding gene. Diseases associated with DGCR14 include digeorge syndrome and malignant ovarian surface epithelial-stromal neoplasm.
UniProtKB/Swiss-Prot for DGCR14 Gene
May be involved in pre-mRNA splicing.