TBX5
T-box transcription factor 5
Normal Function
Health Conditions Related to Genetic Changes
Holt-Oram syndrome
More than 70 mutations in the TBX5 gene have been found to cause Holt-Oram syndrome. Most of these mutations prevent the production of the T-box 5 protein. Other mutations change one of the protein building blocks (amino acids) used to make the T-box 5 protein. Researchers believe that a change in amino acids impairs the protein's ability to bind to DNA. As a result of TBX5 mutations, genes that are important for development of the heart and upper limbs are probably not activated. Abnormal development of the heart and upper limbs is characteristic of Holt-Oram syndrome.
More About This Health ConditionRelated Conditions
Holt-Oram syndrome
Health Conditions Related to Genetic Changes
More than 70 mutations in the TBX5 gene have been found to cause Holt-Oram syndrome. Most of these mutations prevent the production of the T-box 5 protein. Other mutations change one of the protein building blocks (amino acids) used to make the T-box 5 protein. Researchers believe that a change in amino acids impairs the protein's ability to bind to DNA. As a result of TBX5 mutations, genes that are important for development of the heart and upper limbs are probably not activated. Abnormal development of the heart and upper limbs is characteristic of Holt-Oram syndrome.