产品介绍 靶标: ESS2 产品别名: DGCR13; DGCR14; DGS-H; DGS-I; DGSH; DGSI; ES2; ESS-2; Es2el; bis1; ESS2; ess-2 splicing factor homolog; ess-2 splicing factor homolog; splicing factor ESS-2 homolog; DiGeorge syndrome critical region gene 13; DiGeorge syndrome critical region gene 14; DiGeorge syndrome critical region gene DGSI; DiGeorge syndrome gene H; DiGeorge syndrome gene I; Protein DGCR13; diGeorge syndrome protein H; protein DGCR14; 狄乔治(DiGeorge)氏综合征相关蛋白; 背景信息: 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. 宿主:Rbt |
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