WRN wt Allele - CISMeF

Preferred Label : WRN wt Allele;

NCIt synonyms : RECQ3; RECQL2; RECQL3; Werner Syndrome wt Allele;

NCIt definition : Human WRN wild-type allele is located within 8p12-p11.2 and is approximately 140 kb in length. This allele, which encodes Werner syndrome ATP-dependent helicase protein, is involved in the both the formation of DNA replication focal centers and the unwinding of single- and double-stranded DNA in a 3'-5' direction. Certain allelic variants of this gene cause Werner syndrome.;

GenBank Accession Number : NM_000553;

Details

Origin ID

C49413;

UMLS CUI

C1705022;

OMIM relation
- Recq protein-like 2 [OMIM gene]
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_has_abnormality
- WRN Gene Mutation [NCIt concept]
gene_in_chromosomal_location
- 8p12-p11.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Werner Syndrome [NCIt concept]
gene_is_element_in_pathway
- Telomerase Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Base Excision Repair [NCIt concept]
- DNA Binding [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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