The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000. Predicted molecular weight: 43 kDa.
1/50 - 1/100. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
1/10 - 1/50.
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.
Involvement in disease
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.
Immunofluorescence of A2058 cells labelling TBX1 with ab103127. A2058 cells were fixed with 4% PFA (20 min), permeabilized with Triton X-100 (0.1%, 10 min), then incubated with ab103127 (1:25, 1 h at 37℃). Alexa Fluor® 488 conjugated donkey anti-rabbit antibody (green) was used as the secondary antibody (1:400, 50 min at 37℃). Cytoplasmic actin was counterstained with Alexa Fluor® 555 (red) conjugated Phalloidin (7units/ml, 1 h at 37℃) and nuclei were counterstained with DAPI (blue) (10 µg/ml, 10 min). TBX1 immunoreactivity is localized to the nucleus.
Western blot - Anti-TBX1 antibody (ab103127)
Anti-TBX1 antibody (ab103127) at 1/100 dilution + HepG2 cell lysate at 35 µg