ERCC6 wt Allele

Preferred Label : ERCC6 wt Allele;

NCIt synonyms : CKN2; RAD26, S. cerevisiae, Homolog of Gene; CSB; RAD26; UVSS1; COFS; Excision Repair Cross-Complementing, Group 6 Gene; ARMD5; Excision-Repair Cross-Complementing, Group 6 Gene; COFS1; ERCC Excision Repair 6, Chromatin Remodeling Factor wt Allele; Excision-Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6 Gene;

NCIt definition : Human ERCC6 wild-type allele is located in the vicinity of 10q11.23 and is approximately 80 kb in length. This allele, which encodes DNA excision repair protein ERCC-6, is involved in transcription-coupled excision repair. Defects in ERCC6 are the cause of Cockayne's syndrome type B.;

GenBank Accession Number : NM_000124;

Details

Origin ID

C50985;

UMLS CUI

C1707866;

OMIM relation
- Ercc excision repair 6, chromatin remodeling factor [OMIM gene]
See also inter- (CISMeF)
- age related macular degeneration 5 [DO Concept]
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_associated_with_disease
- Cockayne Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 10: 50417078-50336715 [NCIt concept]
gene_in_chromosomal_location
- 10q11 [NCIt concept]
gene_is_element_in_pathway
- Nucleotide Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
- Transcription [NCIt concept]

Keyword's position in hierarchy(ies) :

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