产品概述：Recombinant protein of human T-box 1 (TBX1), transcript variant A

蛋白长度：Recombinant protein was produced with GoldORF clone, [GH44234V]. Click on the GoldORF clone link to view cDNA and protein sequences.

表达系统：HEK293T

种属：Human

标签类型：C-Myc/DDK

分子量：43 kDa

通用名：TBX1

总结：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]

形式：Liquid

浓度：>50 ug/mL as determined by microplate BCA method

纯度：> 80% as determined by SDS-PAGE and Coomassie blue staining

储存溶液：25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

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