Recombinant Human TBX1 Protein, MYC/DDK-tagged

• Cat.No.: TBX1-415H
• Product Overview: Recombinant human TBX1 protein, fused to MYC/DDK tag at C-terminus, was expressed in HEK293.

Specification

• Description: 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].
• Source: HEK293
• Species: Human
• Tag: Myc&DDK
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10 % glycerol.
• Molecular Mass: 52.5 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: T-box 1 [ Homo sapiens ]
• Official Symbol: TBX1
• Synonyms: CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS
• Gene ID: 6899
• mRNA Refseq: NM_005992.1
• Protein Refseq: NP_005983.1
• MIM: 602054
• UniProt ID: O43435