Gene: TERC

Alternate names for this Gene: DKCA1|PFBMFT2|SCARNA19|TR|TRC3|hTR

Gene Summary: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.

Gene is located in Chromosome: 3

Location in Chromosome : 3q26.2

Description of this Gene: telomerase RNA component

Type of Gene: ncRNA

rs2293607 in TERC gene and Adenocarcinoma of lung (disorder) PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

rs2293607 in TERC gene and Non-Small Cell Lung Carcinoma PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

rs1553915580 in TERC gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.