蛋白名称: Guanine nucleotide-binding protein subunit beta-like protein 1 (G protein subunit beta-like protein 1) (DGCRK3) (WD repeat-containing protein 14) (WD40 repeat-containing protein deleted in VCFS) (WDVCF)
功能: 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).,similarity:Contains 6 WD repeats.,tissue specificity:Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: cytoplasm,cytoplasmic side of plasma membrane,
组织表达: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.
科研货号: PLA008753
GNB1L Polyclonal Antibody
Catalog NoPLA008753
Product information
基因名称: GNB1L GY2 KIAA1645 WDR14 FKSG1
蛋白名称: Guanine nucleotide-binding protein subunit beta-like protein 1 (G protein subunit beta-like protein 1) (DGCRK3) (WD repeat-containing protein 14) (WD40 repeat-containing protein deleted in VCFS) (WDVCF)
功能: 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).,similarity:Contains 6 WD repeats.,tissue specificity:Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: cytoplasm,cytoplasmic side of plasma membrane,
组织表达: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.