Telomerase reverse transcriptase

Preferred Label : Telomerase reverse transcriptase;

Symbol : TERT;

CISMeF acronym : TERT;

Type : Gene;

Alternative titles and symbols : Telomerase catalytic subunit; TCS1; EST2;

Description : Human telomeres consist of many kilobases of (TTAGGG)n together with various associated proteins. Small amounts of these terminal sequences are lost from the tips of the chromosomes each S phase because of incomplete DNA replication, but de novo addition of TTAGGG repeats by the enzyme telomerase compensates for this loss. Many human cells progressively lose terminal sequence with cell division, a loss that correlates with the apparent absence of telomerase in these cells (Kipling, 1995).;

Ensembl ID : ENSG00000164362;

Prefixed ID : *187270;

Details

Origin ID

187270;

UMLS CUI

C1367342;

Automatic exact mappings (from CISMeF team)
- TERT Gene [NCIt concept]
- TERT wt Allele [NCIt concept]
- telomerase catalytic subunit [MeSH concept]
- telomerase reverse transcriptase [HGNC gene]
Currated CISMeF NLP mapping
- Telomere Reverse Transcriptase [NCIt concept]
- telomerase reverse transcriptase [ORDO Gene]
HGNC gene
- telomerase reverse transcriptase [HGNC gene]
NCIt concept(s)
- TERT Gene [NCIt concept]
- TERT wt Allele [NCIt concept]
- Telomere Reverse Transcriptase [NCIt concept]
ORDO concept(s)
- telomerase reverse transcriptase [ORDO Gene]
Phenotypes related
- Dyskeratosis congenita, autosomal dominant 2 [OMIM Phenotype]
- Leukemia, acute myeloid [OMIM Phenotype]
- Melanoma, cutaneous malignant, susceptibility to, 9 [OMIM Phenotype]
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 [OMIM Phenotype]
See also inter- (CISMeF)
- telomerase [MeSH Descriptor]
- telomerase [MeSH concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TERT Gene [NCIt concept]
- telomerase reverse transcriptase [ORDO Gene]
- telomerase reverse transcriptase [HGNC gene]

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