Key features and details
- Rabbit polyclonal to TBX1
- Suitable for: WB, ICC/IF
- Reacts with: Human
- Isotype: IgG
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
Storage bufferpH: 7.40
Preservative: 0.02% Sodium azide
Batches of this product that have a concentration < 1mg/ml may have BSA added as a stabilising agent. If you would like information about the formulation of a specific lot, please contact our scientific support team who will be happy to help.
Concentration information loading...
PurityImmunogen affinity purified
Our Abpromise guarantee covers the use of ab18530 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||Use a concentration of 1 µg/ml. Detects a band of approximately 50 kDa (predicted molecular weight: 43 kDa).|
FunctionProbable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.
Involvement in diseaseHaploinsufficiency 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.
Sequence similaritiesContains 1 T-box DNA-binding domain.
- Information by UniProt
- Brachyury antibody
- CAFS antibody
- CTHM antibody
All lanes : Anti-TBX1 antibody (ab18530) at 1 µg/ml
Lane 1 : Human heart tissue lysate (total protein)
Lane 2 : Human skeletal muscle tissue lysate (total protein)
Lysates/proteins at 20 µg per lane.
All lanes : Goat polyclonal to Rabbit IgG - H&L - Pre-Adsorbed (HRP) at 1/50000 dilution
Developed using the ECL technique.
Performed under reducing conditions.
Predicted band size: 43 kDa
Observed band size: 51 kDa why is the actual band size different from the predicted?
Exposure time: 8 minutes
This blot was produced using a 4-12% Bis-tris gel under the MOPS buffer system. The gel was run at 200V for 50 minutes before being transferred onto a Nitrocellulose membrane at 30V for 70 minutes. The membrane was then blocked for an hour using 2% Bovine Serum Albumin before being incubated with ab18530 overnight at 4°C. Antibody binding was detected using an anti-rabbit antibody conjugated to HRP, and visualised using ECL development solution ab133406.
ab18530 staining U-2 OS (human bone osteosarcoma epithelial cell line) 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.
ab18530 has been referenced in 19 publications.
- Miller CN et al. Guggulsterone Activates Adipocyte Beiging through Direct Effects on 3T3-L1 Adipocytes and Indirect Effects Mediated through RAW264.7 Macrophages. Medicines (Basel) 6:N/A (2019). PubMed: 30709026
- Alfano D et al. Tbx1 regulates extracellular matrix-cell interactions in the second heart field. Hum Mol Genet 28:2295-2308 (2019). PubMed: 31180501
- Guo B et al. Clinical study of prenatal ultrasonography combined with T-box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease. Mol Med Rep 17:7346-7350 (2018). PubMed: 29568912
- Hong N et al. A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication. J Transl Med 16:260 (2018). PubMed: 30241482
- Sun H & Jiang P MicroRNA-451a acts as tumor suppressor in cutaneous basal cell carcinoma. Mol Genet Genomic Med 6:1001-1009 (2018). PubMed: 30209892