TBX1; T-box transcription factor TBX1; T-box protein 1; Testis-specific T-box protein
Source:
Rabbit
Dilutions:
Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. Immunofluorescence: 1/200 - 1/1000. ELISA: 1/20000. Not yet tested in other applications.
Immunogen:
The antiserum was produced against synthesized peptide derived from human TBX1. AA range:311-360
Storage:
-20°C/1 year
Clonality:
Polyclonal
Isotype:
IgG
Concentration:
1 mg/ml
Observed Band:
43kD
GeneID:
6899
Human Swiss-Prot No:
O43435
Cellular localization:
Nucleus .
Background:
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008],