NCBI and Uniprot Product Information
NCBI 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 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. [provided by RefSeq, Jul 2008]
Uniprot Description
TBX5: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX5 are the cause of Holt-Oram syndrome (HOS). HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 12q24.21
Cellular Component: cytoplasm; nucleoplasm; nucleus
Molecular Function: DNA binding; protein binding; sequence-specific DNA binding; transcription factor activity; transcription factor binding
Biological Process: cell-cell signaling; embryonic forelimb morphogenesis; embryonic limb morphogenesis; forelimb morphogenesis; heart development; negative regulation of cardiac muscle cell proliferation; negative regulation of cell migration; negative regulation of cell proliferation; pericardium development; positive regulation of cardioblast differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; transcription initiation from RNA polymerase II promoter
Disease: Holt-oram Syndrome
Research Articles on TBX5
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Product Notes
The TBX5 tbx5 (Catalog #AAA475927) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. The Anti-TBX5 Mouse mAb reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's TBX5 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the TBX5 tbx5 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "TBX5, Monoclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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