TBX5, also known as T-box 5. It 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. It is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The TBX5 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.
应用类型
WB
免疫原
Purified recombinant fragment of TBX5 expressed in E. Coli.
