TBX1
TBX1 (T-box transcription factor 1, also known as CATCH22 or VCF) is a nuclear transcription factor that drives cardiovascular and pharyngeal development in the embryo. It belongs to the T-box family of DNA-binding regulators of developmental processes. Browse Assay Genie's current range of TBX1 research reagents below, or read on for the biology behind the target.
TBX1 is a transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. It is also involved in craniofacial muscle development. Together with NKX2-5, TBX1 regulates asymmetric cardiac morphogenesis by promoting expression of PITX2. The protein acts upstream in the formation of the thymus and parathyroid glands from the third pharyngeal pouch, and it is required for hair follicle stem cell self-renewal. At the DNA level, TBX1 binds the palindromic T site 5'-TTCACACCTAGGTGTGAA-3'.
The TBX1 gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Consistent with its role in the nucleus, the TBX1 protein is localised to this compartment. Several alternatively spliced transcript variants encoding different isoforms have been described for the gene. The human protein shares 98% amino acid sequence identity with the mouse ortholog, Tbx1, which makes mouse models a close fit for functional work.
The alternative names CATCH22 and VCF, and the previous name velocardiofacial syndrome, reflect the disease association of the locus. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS) is a common congenital disorder characterised by neural-crest-related developmental defects, and it has been associated with deletions of chromosome 22q11.2, where this gene maps. Studies in mouse models of DiGeorge syndrome suggest a major role for TBX1 in the molecular aetiology of DGS/VCFS.
TBX1 promotes pharyngeal arch segmentation and, with NKX2-5, regulates asymmetric cardiac morphogenesis through PITX2 expression.
The gene maps to 22q11.2, and mouse model studies suggest a major role for it in the aetiology of DGS/VCFS.
TBX1 acts upstream in forming the thymus and parathyroid glands from the third pharyngeal pouch.
TBX1 contributes to craniofacial muscle development and is required for hair follicle stem cell self-renewal.
TBX1 is a nuclear transcription factor that promotes pharyngeal arch segmentation and supports cardiovascular and craniofacial muscle development. With NKX2-5 it promotes PITX2 expression in asymmetric cardiac morphogenesis, and it is required for hair follicle stem cell self-renewal. It binds a palindromic T site DNA sequence.
TBX1 is also known as CATCH22 and VCF, and was previously named velocardiofacial syndrome and T-box 1. Its official name is T-box transcription factor 1. Several alternatively spliced transcript variants encoding different isoforms have been described for the gene.
Human TBX1 shares 98% amino acid sequence identity with mouse Tbx1. The gene lies in the 22q11.2 region, whose deletion is associated with DiGeorge/velocardiofacial syndrome, and mouse models point to a major role for TBX1. Check the datasheet of any product for its validated reactivity.
Other T-box transcription factors and developmental regulators connected to TBX1 in cardiac morphogenesis, with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O43435; product specifications from Assay Genie datasheets.