TBX5 (T-box 5) is a transcription factor belonging to the evolutionary conserved T-box family of genes. This gene is localized to human chromosome 12q24.1. This protein is expressed in proepicardial organ (PEO)/ septum transversum.
Synonyms: Anti-4P11; Anti-HOS; Anti-OTTHUMG00000018096; Anti-QOH-1; Anti-T-box 5; Anti-bA342C24.4
Storage: -20C
Application: Anti-TBX5 antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org). Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: TBX5 (T-box 5) plays a key role in the morphogenesis of vertebrate cardiac system. It controls cardiac growth and development by acing as an inducer of cardiac cell division arrest. Mutations in this gene result in cardiac abnormalities, such as septation defects and isomeris. Mutations also result in deformation of upper limbs and Holt-Oram syndrome (HOS), which is an autosomal dominant disorder. Mutations in this gene are also associated with arrhythmias and non-synodromic/synodromic congenital heart diseases. Loss of function mutation in this gene also results in familial dilated cardiomyopathy.
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