TBX1 : T-box transcription factor 1

Description

The TBX1 (T-box transcription factor 1) is a protein-coding gene located on chromosome 22.

The TBX1 gene provides instructions for making a protein called T-box protein 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins produced from these genes bind to specific areas of DNA. The proteins attach to critical regions near genes and help control the activity of those genes. T-box proteins are called transcription factors on the basis of this action. T-box protein 1 appears to be necessary for the normal development of muscles and bones of the face and neck, large arteries that carry blood out of the heart, structures in the ear, and glands such as the thymus and parathyroid. Although T-box protein 1 acts as a transcription factor, researchers have not determined which genes are regulated by this protein.

TBX1 is a transcription factor that plays a crucial role in cardiovascular development by promoting the segmentation of pharyngeal arches during embryonic development. It also participates in craniofacial muscle development. In collaboration with NKX2-5, TBX1 acts as a regulator of asymmetric cardiac morphogenesis by promoting the expression of PITX2. It acts upstream of itself for the formation of the thymus and parathyroid glands from the third pharyngeal pouch. TBX1 is required for hair follicle stem cell self-renewal. It binds to the palindromic T site DNA sequence 5'-TTCACACCTAGGTGTGAA-3'.

TBX1 is also known as CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing