鍩哄洜鍚嶏細

ESS2

浜у搧鍒悕锛欬p style="text-indent: 2em;">DGCR13锛 DGCR14锛 DGS-H锛 DGS-I锛 DGSH锛 DGSI锛 ES2锛 ESS-2锛 Es2el锛 bis1锛 ESS2锛 ess-2 splicing factor homolog锛 ess-2 splicing factor homolog锛 splicing factor ESS-2 homolog锛 DiGeorge syndrome critical region gene 13锛 DiGeorge syndrome critical region gene 14锛 DiGeorge syndrome critical region gene DGSI锛 DiGeorge syndrome gene H锛 DiGeorge syndrome gene I锛 Protein DGCR13锛 diGeorge syndrome protein H锛 protein DGCR14锛 鐙勪箶娌?DiGeorge)姘忕患鍚堝緛鐩稿叧铔嬬櫧锛汓/p>
鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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.