TBX5 Gene
T-box transcription factor 5
ALIAS SYMBOLS
None
Your Results
Sign InDescription
The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the T-box 5 protein is called a transcription factor.
During embryonic development, the T-box 5 protein turns on (activates) genes involved in the normal development of the hands and arms (upper limbs). The T-box 5 protein also activates genes that play an important role in the growth and development of the heart. This protein appears to be particularly important for the formation of the wall (septum) that separates the right and left sides of the heart. The T-box 5 protein is also critical to the formation of the electrical system that coordinates contractions of the heart chambers.
CHROMOSOME
12
LOCATION
q24.21
LOCUS TYPE
gene with protein product
VARIANTS
309
Phenotypes
External Links
HGNC
Ensembl
NCBI
OMIM