TBATA
The TBATA Gene: A Comprehensive Guide
Description
The TBATA gene (also known as TBC1 domain and transmembrane active transport with homophilic adhesion function gene) encodes a protein involved in various cellular processes, including cytoskeletal organization, cell adhesion, and signal transduction. It consists of 20 exons and spans approximately 100kb of genomic DNA. Mutations in the TBATA gene have been associated with several human diseases.
Associated Diseases
Mutations in the TBATA gene have been linked to several conditions, including:
- Congenital heart defects (CHD): TBATA mutations are a leading cause of non-syndromic CHD, particularly affecting the right ventricular outflow tract.
- Pulmonary stenosis: A narrowing of the pulmonary artery caused by abnormal development.
- Tetralogy of Fallot: A combination of four heart defects that occur together, including pulmonary stenosis.
- Intellectual disability: Rare mutations in TBATA have been associated with intellectual disability and autism spectrum disorder.
Did you Know ?
Studies have shown that TBATA mutations are responsible for approximately 1% of non-syndromic CHD cases. This makes TBATA mutations a relatively common cause of CHD, highlighting the importance of its proper functioning in heart development.
