T-box
Encyclopedia
T-box refers to a group of transcription factor
s involved in limb
and heart
development. In humans and some other animals, defects in the TBX5
gene expression
can lead to finger
-like thumbs and ventricular septal defect
s in which there is no separation between the left and right ventricle
of the heart
and are responsible for Holt-Oram syndrome
.
Genes encoding T-box proteins include:
Transcription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
s involved in limb
Limb development
Limb development in tetrapods — animals with four limbs — is an area of active research in developmental biology. Limb formation begins in the limb field, as a limb "bud." Fibroblast growth factor induces formation of an organizer, called the apical ectodermal ridge , which guides further...
and heart
Heart
The heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...
development. In humans and some other animals, defects in the TBX5
TBX5 (gene)
T-box transcription factor TBX5 is a protein that in humans is encoded by the TBX5 gene.-Interactions:TBX5 has been shown to interact with GATA4 and NKX2-5.-External Links:*...
gene expression
Gene expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product. These products are often proteins, but in non-protein coding genes such as ribosomal RNA , transfer RNA or small nuclear RNA genes, the product is a functional RNA...
can lead to finger
Finger
A finger is a limb of the human body and a type of digit, an organ of manipulation and sensation found in the hands of humans and other primates....
-like thumbs and ventricular septal defect
Ventricular septal defect
A ventricular septal defect is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.The membranous...
s in which there is no separation between the left and right ventricle
Ventricle (heart)
In the heart, a ventricle is one of two large chambers that collect and expel blood received from an atrium towards the peripheral beds within the body and lungs. The Atria primes the Pump...
of the heart
Heart
The heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...
and are responsible for Holt-Oram syndrome
Holt-Oram syndrome
Holt–Oram syndrome is a disorder that affects bones in the arms and hands and may also cause heart problems.-Presentation:All people with this disorder have at least one limb abnormality that affects bones in the wrist . Often, these wrist bone abnormalities can be detected only by X-ray...
.
Genes encoding T-box proteins include:
- TBR1TBR1T-box, brain, 1 is a protein that in humans is encoded by the TBR1 gene. This gene is also known by several other names: T-Brain 1, TBR-1, TES-56, and MGC141978. TBR1 is a member of the T-box family of transcription factors that share a common DNA-binding domain...
) - TBX1TBX1TBX1 is a human gene that codes for the protein called T-box 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 made by this gene family bind to specific areas of DNA. By attaching to critical...
- TBX2TBX2T-box transcription factor TBX2 is a protein that in humans is encoded by the TBX2 gene.-Further reading:...
- TBX3TBX3T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.-Further reading:...
- TBX4
- TBX5TBX5 (gene)T-box transcription factor TBX5 is a protein that in humans is encoded by the TBX5 gene.-Interactions:TBX5 has been shown to interact with GATA4 and NKX2-5.-External Links:*...
- TBX6
- TBX10
- TBX15
- TBX18
- TBX19TBX19T-box transcription factor TBX19 is a protein that in humans is encoded by the TBX19 gene....
- TBX20TBX20TBX20 is a member of the T-box family that encodes the transcription factor TBX20. Studies in mouse, human and fruitfly have shown that this gene is essential for early heart development...
- TBX21TBX21T-box transcription factor TBX21 is a protein that in humans is encoded by the TBX21 gene....
- TBX22TBX22T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.TBX22 is a member of a phylogenetically conserved family of proteins that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental...