TBX5 gene encodes the T-box transcription factor that is
responsible for regulating the developmental process of the cells.
It helps in developing the heart chambers, the electrical
conducting system and the septum of the heart. In the cellular
level, inhibition of the expression ofTbx5 gene causes absence of
Mutations in the Tbx5 gene results in a disorder called the Holt-Oram syndrome, that affects the heart and upper limbs. The phenotypic effect of the Tbx5 gene is - a hole in the heart or abnormal limb development. The ones with homozygous Tbx5 gene would not be able to survive gestation whereas the heterozygous ones would have abnormal development.
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