telomerase reverse transcriptase
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood interstitial lung disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood solid tumours
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCOVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalCytopenias and congenital anaemias
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+20 more panels — install the extension to see the full list inline on any page.
dyskeratosis congenita, autosomal dominant 2
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
dyskeratosis congenita
idiopathic pulmonary fibrosis
acute myeloid leukemia
autosomal recessive dyskeratosis congenita 4
aplastic anemia
melanoma, cutaneous malignant, susceptibility to, 9
interstitial lung disease
pulmonary fibrosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Telomerase reverse transcriptase
Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis
Curated MONDO disease pages that list TERT among their top associated genes.
TERT · O14746
Mean pLDDT
80.2/ 100
Confident
1,132 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
