TBX1
T-box transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene.[5] Genes in the T-box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development.[6] To carry out these roles, proteins made by this gene family bind to specific areas of DNA called T-box binding element (TBE)[6] to control the expression of target genes.
Gene
The TBX1 gene is located on the long (q) arm of
Function
The T-box 1 protein appears to be necessary for the normal development of large arteries that carry blood out of the
Although the T-box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein.TBX1 is thought to operate on the same developmental pathway as CHD7 which can be mutated in CHARGE syndrome. [9]
Clinical significance
Most cases of
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
Mutation in TBX1 causes predisposition to hernias.[15]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000184058 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000009097 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: T-box 1".
- ^ S2CID 32296875.
- S2CID 21030663.
- S2CID 41144744.
- PMID 37463940.
- S2CID 37195058.
- S2CID 785356.
- S2CID 32995817.
- PMID 12668595.
- PMID 13129704.
- PMID 24295890.
Further reading
- Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, et al. (September 2013). "Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency". Human Mutation. 34 (9): 1250–1259. PMID 23661601.
External links
- TBX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Online Mendelian Inheritance in Man (OMIM): 602054
- EntrezGene 6899
- GeneCard for TBX1
This article incorporates text from the United States National Library of Medicine, which is in the public domain.