功能: developmental stage:Expressed in fetal brain, heart, kidney, liver and lung.,disease:May 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 (the DiGeorge syndrome chromosome region, or DGCR).,function:Probable transcriptional regulator that may play a crucial role in embryogenesis.,similarity:Contains 2 BTB (POZ) domains.,similarity:Contains 6 Kelch repeats.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endomembrane system . Recycling endosome . Golgi apparatus .
功能: developmental stage:Expressed in fetal brain, heart, kidney, liver and lung.,disease:May 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 (the DiGeorge syndrome chromosome region, or DGCR).,function:Probable transcriptional regulator that may play a crucial role in embryogenesis.,similarity:Contains 2 BTB (POZ) domains.,similarity:Contains 6 Kelch repeats.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Endomembrane system . Recycling endosome . Golgi apparatus .