The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Detects a band of approximately 50 kDa (predicted molecular weight: 43 kDa).
Use at an assay dependent concentration. PubMed: 21908517
Use at an assay dependent concentration. PubMed: 25197075
Use at an assay dependent concentration. PubMed: 21177346
機能Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.
関連疾患Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) [MIM:188400, 192430]. DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life. Defects in TBX1 are a cause of DiGeorge syndrome (DGS) [MIM:188400]. Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430]. Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Immunocytochemistry/ Immunofluorescence - TBX1 antibody (ab18530)This image is courtesy of an Abreview submitted by Antibody Solutions Ltd.
ab18530 staining human U2OS cells by ICC/IF. Cells were PFA fixed and permeabilized in 0.2% Triton-100 [PBS] prior to blocking in 1% BSA for 15 minutes at 20°C. The primary antibody was diluted 1/100 and incubated with the samples for 45 minutes at 20°C. The secondary antibody was an Alexa Fluor® 647 conjugated donkey anti-rabbit, diluted 1/1000.