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.
仕様
Synonyms:Brachyury,CAFS,CTHM,DGCR,DGS,DORV,T box,T box 1,T box 1 transcription factor,T box 1 transcription factor C,T box protein 1,T box transcription factor TBX 1,T box transcription factor TBX1,T-box protein 1,T-box transcription factor TBX1,TBX 1,TBX 1C,tbx1,TBX1,TBX1C,Testis specific T box protein,Testis-specific T-box protein,TGA,VCFS
Host:Rabbit
Reactivity:Human
Applications:WB,IHC-p,IF,ELISA
Concentration:1mg/mL
Immunogen:Synthesized peptide derived from the C-terminal region of human TBX1
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:PBS with 0.02% sodium azide,0.5% BSA and 50% glycerol pH 7.4.
Dilution:WB 1:500-1:2000, IHC 1:100-1:300, IF 1:200-1:1000, ELISA 1:20000
Gene_ID(human):6899
Swissprot:O43435
Isotype:IgG
Research Areas:Cancer, Epigenetics and Nuclear Signaling, Neuroscience