蛋白质/抗原/多肽 >> 重组蛋白
重组狄乔治(DiGeorge)氏综合征相关蛋白
产品介绍 基因名： 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： DGCR14 is a 476 amino acid nuclear protein that belongs to the DGCR14 family. DGCR14 is believed to play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (DiGeorge syndrome chromosome region, or DGCR). This protein localizes to the nucleus and co-purifies with C complex spliceosomes. 标签：His-tag |
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