Telomere Maintenance Gene

Preferred Label : Telomere Maintenance Gene;

NCIt definition : Telomere Maintenance Genes encode specialized proteins bound to telomeric DNA repeats and directly involved in maintaining/protecting chromosome telomere ends to prevent a damage response that halts cell proliferation. Telomerase, which lengthens telomeric DNA by RNA-templated addition of repeated DNA sequences, is regulated by proteins that bind to the telomeric DNA repeats and to additional proteins to assemble a higher-order telomeric complex. (NCI);

Details

Origin ID

C20338;

UMLS CUI

C1336700;

Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ACD Gene Mutation [NCIt concept]
- CTC1 Gene Mutation [NCIt concept]
- DKC1 Gene Mutation [NCIt concept]
- NHP2 Gene Mutation [NCIt concept]
- NOP10 Gene Mutation [NCIt concept]
- PARN Gene Mutation [NCIt concept]
- POT1 Gene Mutation [NCIt concept]
- RTEL1 Gene Mutation [NCIt concept]
- TERC Gene Mutation [NCIt concept]
- TERT Gene Mutation [NCIt concept]
- TERT NM_198253.2:c.1-124C>T [NCIt concept]
- TERT NM_198253.2:c.1-146C>T [NCIt concept]
- TERT Promoter Mutation [NCIt concept]
- TINF2 Gene Mutation [NCIt concept]
- Telomere Maintenance Gene Mutation [NCIt concept]
- WRAP53 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_mapped_to_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_plays_role_in_process
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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