DATASHEET
Host:
Rabbit
Target Protein:
TBX1
Immunogen Range:
165-270/398
Clonality:
Polyclonal
Isotype:
IgG
Entrez Gene:
6899
Source:
KLH conjugated synthetic peptide derived from human TBX1
Purification:
Purified by Protein A.
Storage Buffer:
Aqueous buffered solution containing 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Storage:
Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
Background:
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) . 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) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). 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.
Conjugation:
AbBy Fluor® 647
Excitation/ Emission:
650nm/665nm
Size:
100ul
Concentration:
1ug/ul
Applications:
WB(1:300-5000)
FCM(1:20-100)
43
Human
Mouse
Rat
Predicted Cross Reactive Species:
Dog
Cow
Pig
Horse
Chicken
For research use only. Not intended for diagnostic or therapeutic use.