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.
应用类型
WB, IHC, IF
免疫原
Synthesized peptide derived from the C-terminal region of human TBX1. Location: 280-360aa.
来源宿主
Rabbit
反应性
该TBX1 抗体 - C-末端区域的反应性请参考该产品的说明书
保存建议
Store at -20C. Avoid repeated freeze/thaw cycles.
其他
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