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dgcr14

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Official Full Name
DiGeorge syndrome critical region gene 14
Background
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.
Synonyms
DGCR14; DiGeorge syndrome critical region gene 14; DGCR13, DiGeorge syndrome critical region gene 13; protein DGCR14; DGS H; DGSI; ES2; Es2el; DGCR13; DGS I; DGSH; DiGeorge syndrome critical region gene DGSI; DiGeorge syndrome critical region protein 14; DiGeorge syndrome gene H; DiGeorge syndrome gene I; ES2 protein; Protein DGCR13; OTTHUMP00000196363; diGeorge syndrome protein H; diGeorge syndrome critical region 13; diGeorge syndrome critical region 14; DiGeorge syndrome critical region gene 13; DiGeorge syn; DGS-H; DGS-I; fc19d10; wu:fc19d10; zgc:162979