![T-Box Protein 5 (TBX5)](/upload/item/img/T-Box-Protein-5-(TBX5)-97856.jpg)
TBX5 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 is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene.From the critical region they likewise isolated a gene with a high degree of homology to mouse Tbx5 and identified several mutations in TBX5 in affected members of HOS families.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant T-Box Protein 5 (TBX5) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to T-Box Protein 5 (TBX5) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to T-Box Protein 5 (TBX5) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for T-Box Protein 5 (TBX5) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for T-Box Protein 5 (TBX5) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPH856Mu01 | Recombinant T-Box Protein 5 (TBX5) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | n/a | Monoclonal Antibody to T-Box Protein 5 (TBX5) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to T-Box Protein 5 (TBX5) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for T-Box Protein 5 (TBX5) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for T-Box Protein 5 (TBX5) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant T-Box Protein 5 (TBX5) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to T-Box Protein 5 (TBX5) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to T-Box Protein 5 (TBX5) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for T-Box Protein 5 (TBX5) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for T-Box Protein 5 (TBX5) | ELISA Kit Customized Service Offer |
- "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family."Nat. Genet. 15:21-29(1997) [PubMed] [Europe PMC] [Abstract]
- "Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome."Nat. Genet. 15:30-35(1997) [PubMed] [Europe PMC] [Abstract]
- "Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations."Proc. Natl. Acad. Sci. U.S.A. 96:2919-2924(1999) [PubMed] [Europe PMC] [Abstract]
- "The mutation spectrum in Holt-Oram syndrome."J. Med. Genet. 37:785-787(2000) [PubMed] [Europe PMC] [Abstract]
- "The finished DNA sequence of human chromosome 12." Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "GATA4 loss-of-function mutations underlie familial tetralogy of fallot."Hum. Mutat. 34:1662-1671(2013) [PubMed] [Europe PMC] [Abstract]
- "Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form."J. Mol. Biol. 400:71-81(2010) [PubMed] [Europe PMC] [Abstract]
- "Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome."Am. J. Med. Genet. 92:237-240(2000) [PubMed] [Europe PMC] [Abstract]
- "Mutation in myosin heavy chain 6 causes atrial septal defect."Nat. Genet. 37:423-428(2005) [PubMed] [Europe PMC] [Abstract]