CTC1 wt Allele

Preferred Label : CTC1 wt Allele;

NCIt synonyms : tmp494178; C17orf68; CRMCC; CST Telomere Replication Complex Component 1 wt Allele; FLJ22170; Chromosome 17 Open Reading Frame 68 Gene; AAF-132; AAF132;

NCIt definition : Human CTC1 wild-type allele is located in the vicinity of 17p13.1 and is approximately 23 kb in length. This allele, which encodes CST complex subunit CTC1 protein, is involved in the replication of telomeric DNA. Mutation of the gene is associated with cerebroretinal microangiopathy with calcifications and cysts.;

NCI Metathesaurus CUI : CL553307;

GenBank Accession Number : AL831955;

Details

Origin ID

C152099;

UMLS CUI

C4724055;

Automatic exact mappings (from CISMeF team)
- CST telomere replication complex component 1 [ORDO Gene]
- Coats plus syndrome [ORDO Disease]
- Conserved telomere maintenance component 1 [OMIM gene]
OMIM relation
- Conserved telomere maintenance component 1 [OMIM gene]
See also inter- (CISMeF)
- Cerebroretinal microangiopathy with calcifications and cysts 1 [OMIM Phenotype]
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_in_chromosomal_location
- 17p13.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Replication-Associated Process [NCIt concept]
- Telomere Capping [NCIt concept]
- Telomere Length Maintenance [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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