TBX1


TBX1

Protein
Name=PAGENAME


caption=
Symbol=TBX1
AltSymbols=
HGNCid=11592
Chromosome=22
Arm=q
Band=11
LocusSupplementaryData=.21
ECnumber=
OMIM=602054
EntrezGene=6899
RefSeq=NM_080647
UniProt=O43435
PDB=

TBX1 (T-box 1) is a human gene that provides instructions for making a 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 regions near genes, the proteins help control the activity of those genes. T-box proteins are called transcription factors on the basis of this action.

The T-box 1 protein appears to be necessary for the normal development of large arteries that carry blood out of the heart, muscles and bones of the face and neck, and glands such as the thymus and parathyroid. Although the T-box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein.

The TBX1 gene is located on the long (q) arm of chromosome 22 at position 11.21, from base pair 18,118,779 to base pair 18,145,669.

Related conditions

Most cases of 22q11.2 deletion syndrome are caused by the deletion of a small piece of chromosome 22. This region of the chromosome contains about 30 genes, including the TBX1 gene. In a small number of affected individuals without a chromosome 22 deletion, mutations in the TBX1 gene are thought to be responsible for the characteristic signs and symptoms of the syndrome. Of the three known mutations, two mutations change one amino acid (a building block of proteins) in the T-box 1 protein. The third mutation deletes a single amino acid from the protein. These mutations likely disrupt the ability of the T-box 1 protein to bind to DNA and regulate the activity of other genes.

Researchers believe that a loss of the TBX1 gene, due to either a mutation in the gene or a deletion of part of chromosome 22, is responsible for many of the features of 22q11.2 deletion syndrome. Specifically, a loss of the TBX1 gene is associated with heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels, but does not appear to cause learning disabilities.

References

*
*
* " [http://hmg.oxfordjournals.org/cgi/content/full/12/suppl_1/R37 Full text] "
*
*"This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine] "

ee also

* T-box

External links

*
*
*
*


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Congenital heart defect — Classification and external resources The normal structure of the heart (left) in comparison to two common locations for a ventricular septal defect (right), the most common form of congenital heart defect.[1] …   Wikipedia

  • Chromosome 22 (human) — Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of Chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing… …   Wikipedia

  • T-box — Pfam box Symbol = T box Name = T box width = caption = Crystallographic structure of the TBX3 protein dimer (cyan and green) complexed with DNA (brown) based on the PDB|1h6f coordinates. Pfam= PF00907 InterPro= IPR001699 SMART= PROSITE = PS50252… …   Wikipedia

  • Catch 22 (maladie) — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

  • Microdeletion 22q11 — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

  • Syndrome de DiGeorge — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

  • Syndrome de Di George — Microdélétion 22q11 Pour les articles homonymes, voir Syndrome de Shprintzen. Micro délétion 22q11 …   Wikipédia en Français

  • T-box — Estructura tridimensional de la proteína dimérica TBX3 (azul y verde) unida al ADN (marrón). Identificadores Símbolo T box …   Wikipedia Español

  • Врождённые пороки сердца — МКБ 10 Q …   Википедия

  • 22q11.2 deletion syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 3631 ICD10 = ICD10|D|82|1|d|80 ICD9 = ICD9|279.11, ICD9|758.32 ICDO = OMIM = 188400 MedlinePlus = eMedicineSubj = med eMedicineTopic = 567 eMedicine mult = eMedicine2|ped|589… …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.