Alt. symbols: TRT | TP2 | TCS1 | hEST2 | EST2

Approved name: telomerase reverse transcriptase
Alt. names: telomerase reverse transcriptase | telomerase catalytic subunit | telomeraseassociated protein 2

Location: 5p15.33: 1253147 - 1295068 (-)
Gene type: protein_coding, 7 transcripts.

Scores: LoFtool: | pLI: 0.86615119 | LOEUF: 0.293

HGNC: 11730

NCBI: 7015, RefSeq: NG_009265.1

Ensembl: ENSG00000164362.21

LRG_343 | Status: public

OMIM: 187270

Expression | ProteinAtlas

TERT gene encodes the Telomerase Reverse Transcriptase (hTERT), the catalytic subunit of the ribonucleoprotein enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex. Telomerases are essential to maintain 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). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). Telomerase counteracts the shortening of telomeres by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. In most types of cells, telomerase is either undetectable or active at very low levels. However, telomerase is highly active in cells that divide rapidly, such as cells that line the lungs and gastrointestinal tract, cells in bone marrow, and cells of the developing fetus. Telomerase allows these cells to divide many times without becoming damaged or undergoing apoptosis. Telomerase is also abnormally active in most cancer cells, which grow and divide without control or order.

Both monoallelic and biallelic mutations in TERT are associated with autosomal dominant and autosomal recessive forms of dyskeratosis congenita. Some monoallelic variants have also been linked to pulmonary fibrosis and/or bone marrow failure, and with increased risk of various cancer sincluding; melanoma, breast cancer, skin cancer, or acute myeloid leukemia. Moreover, the syndrome known as Cri du chat, which is caused by deletions of part of the short arm of chromosome 5, includes the deletion of the TERT gene. [Load More]