Western blot analysis of TBX5 over-expressed 293 cell line, cotransfected with TBX5 Validated Chimera RNAi ( Cat # H00006910-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with TBX5 monoclonal antibody (M01), clone 1G10 (Cat # H00006910-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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