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]

Specificity:

T-box 1

Alternative names:

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

Species reactivity:

Human, Mouse, Rat

Host:

Mouse

Ig type:

PBS (PH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.

Immunogen:

Full length human recombinant protein of human TBX1(NP_542377) produced in HEK293T cell.

Purification & Purity:

Purified from mouse ascites fluids or tissue culture supernatant by affinity chromatography (protein A/G)

Molecular weight:

43 kDa(Predicted)

Applications:

IHC, WB

Usage:

WB 1:4000, IHC 1:150

Storage:

PBS (PH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide.

Precautions:

For research use only, not for use in diagnostic procedure.

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