Catalytic activity:Deoxynucleoside triphosphate + DNA (n) = diphosphate + DNA (n+1) . ,Disease:Activation of telomerase has been implicated in cell immortalization and cancer cell pathogenesis. ,Disease:Defects in TERT are a cause of dyskeratosis congenita autosomal dominant (ADDKC) [MIM:127550]; also known as dyskeratosis congenita Scoggins type. ADDKC is a rare , progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation , nail dystrophy , and mucosal leukoplakia. Early mortality is often associated with bone marrow failure , infections , fatal pulmonary complications , or malignancy. ,Disease:Defects in TERT are associated with susceptibilty to aplastic anemia (AA) [MIM:609135]. AA is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. In most patients , the stem cell lesion is caused by an autoimmune attack. T-lymphocytes , activated by an endogenous or exogenous , and most often unknown antigenic stimulus , secrete cytokines , including IFN-gamma , which would in turn be able to suppress hematopoiesis. ,Disease:Defects in TERT increases susceptibility to idiopathic pulmonary fibrosis [MIM:178500]. Idiopathic pulmonary fibrosis is an adult-onset , lethal , scarring lung disease of unknown etiology. Its clinical features are shortness of breath , radiographically evident diffuse pulmonary infiltrates , and varying degrees in inflammation , fibrosis , or both on biopsy. It is rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and endstage lung disease. ,Disease:Genetic variations in TERT are associated with coronary artery disease (CAD) . ,Function:Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. ,similarity:Belongs to the reverse transcriptase family. Telomerase subfamily. ,similarity:Contains 1 reverse transcriptase domain. ,subunit:Catalytic subunit of the telomerase holoenzyme complex at least composed of TERT , DKC1 , WDR79/TCAB1 , NOP10 , NHP2 , GAR1 , TEP1 , EST1A , POT1 and a telomerase RNA template component (TERC) . Interacts with PINX1 and MCRS1. ,
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