What type of gene is TERT?
TERT (Telomerase Reverse Transcriptase) is a Protein Coding gene. Diseases associated with TERT include Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 and Dyskeratosis Congenita, Autosomal Dominant 2. Among its related pathways are Malignant pleural mesothelioma and Regulation of Telomerase.
What is a TERT mutation?
The recently discovered, highly recurrent mutations in the promoter of TERT are found in over 50 cancer types, and are the most common mutation in many cancers. Transcriptional activation of TERT, via promoter mutation or other mechanisms, is the rate-limiting step in production of active telomerase.
Where is TERT gene found?
chromosome 5
The TERT gene consists of 16 exons and 15 introns within a ~40 kb gene body and is localized on the short arm of the chromosome 5 (5p. 15:33), a megabase distance from the 5p end (Fig. 2) [21, 22].
Is the TERT gene an oncogene?
In fact, most transcription factors have been identified as possible TERT gene regulators, such as protein kinases, growth factors, and oncogenic proteins. Canonical positive regulators of TERT transcription include the oncogene c-MYC, Sp1, NF-κB, STAT family of proteins, AP-2, and GSC.
What does TERT gene do?
The TERT gene provides instructions for making one component of an enzyme called telomerase. Telomerase maintains structures called telomeres, which are composed of repeated segments of DNA found at the ends of chromosomes. Telomeres protect chromosomes from abnormally sticking together or breaking down (degrading).
What does TERT mean?
TERT
| Acronym | Definition |
|---|---|
| TERT | Tertiary |
| TERT | Telomerase Reverse Transcriptase |
| TERT | Telecommunicator Emergency Response Taskforce |
| TERT | Timpanogos Emergency Response Team (Utah) |
What causes TERT mutation?
TERT gene mutations have also been found in people with isolated aplastic anemia, a form of bone marrow failure that occurs without the other physical features of dyskeratosis congenita. Researchers suggest that mutations affecting different parts of the telomerase enzyme may account for the absence of these features.
What does the TERT promoter do?
TERT gene encodes the catalytic subunit of telomerase, an enzyme complex that regulates telomere length. TERT promoter mutations in 2 hotspots (C228T and C250T) have been shown to increase telomerase activity and contribute to tumorigenesis by allowing cancer cells to overcome cellular senescence.
What does TERT protein do?
The TERT protein is the catalytic component of the telomerase enzyme. This protein is responsible for the synthesis of telomeric DNA repeats from the RNA template located within TR.
Is TERT a tumor suppressor?
The programmed silencing of TERT, loss of telomerase activity and the resulting shortening of telomeres is not a universal phenomenon in mammals. Apparently, this tumour suppressor pathway is restricted to large animals with a reproductive strategy that requires a long lifespan28.
What does TERT do telomerase?
To be specific, TERT is responsible for catalyzing the addition of nucleotides in a TTAGGG sequence to the ends of a chromosome’s telomeres. This addition of repetitive DNA sequences prevents degradation of the chromosomal ends following multiple rounds of replication.