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.

Applications:

ELISA, WB, IHC

Name of antibody:

TBX1

Immunogen:

Synthetic peptide of human TBX1

Full name:

T-box 1

Synonyms:

DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22

SwissProt:

O43435

ELISA Recommended dilution:

5000-10000

IHC positive control:

Human liver cancer

IHC Recommend dilution:

25-100

WB Predicted band size:

43 kDa

WB Positive control:

293T and Hela cell lysates

WB Recommended dilution:

500-2000