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TBX1 T-box 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005992 Homo sapiens T-box 1 (TBX1), transcript variant B, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_080646 Homo sapiens T-box 1 (TBX1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_080647 Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol TBX1
Entrez Gene ID 6899
Full Name T-box 1
Synonyms CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q11.21

Summary 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].
Disorder

MIM: 602054

Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome,

mRNA Protein Product Sequence Price Select
NM_005992, 5174710 NP_005983, 5174711 T-box transcription factor TBX1 isoform B ORF Sequence $400.00
NM_080646, 18104949 NP_542377, 18104950 T-box transcription factor TBX1 isoform A ORF Sequence $400.00
NM_080647, 18104951 NP_542378, 18104952 T-box transcription factor TBX1 isoform C ORF Sequence $550.00
WikiPathways
WP1591Heart Development
Homo sapiens (human)TBX1NP_542378.1
Pan troglodytes (chimpanzee)TBX1XP_514982.3
Canis lupus familiaris (dog)TBX1XP_850266.2
Mus musculus (house mouse)Tbx1NP_035662.1
Rattus norvegicus (Norway rat)Tbx1NP_001101792.1
Danio rerio (zebrafish)tbx1NP_899182.1
Caenorhabditis elegansmls-1NP_498640.1
GeneCards TBX1
PDB 4A04
UniProt O43435, Q152R5, D9ZGG0
MIM 602054
Ensembl ENSG00000184058
HGNC 11592
HPRD 09069

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
T-box transcription factor TBX1
Names
T-box transcription factor TBX1
brachyury
Testis-specific T-box protein
T-box 1 transcription factor C

Interactant



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