ERCC8 wt Allele

Preferred Label : ERCC8 wt Allele;

NCIt synonyms : CSA; UVSS2; ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit wt Allele; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 8 Gene; Excision Repair Cross-Complementation Group 8 Gene; Excision Repair Cross-Complementing, Group 8 Gene; Cockayne Syndrome 1 (Classical) Gene; CKN1;

NCIt definition : Human ERCC8 wild-type allele is located in the vicinity of 5q12.1 and is approximately 71 kb in length. This allele, which encodes DNA excision repair protein ERCC-8, is involved in transcription-coupled nucleotide excision repair. Mutation of the gene is associated with Cockayne syndrome A and UV-sensitive syndrome 2.;

NCI Metathesaurus CUI : CL1407275;

GenBank Accession Number : U28413;

Details

Origin ID

C173246;

UMLS CUI

C5401284;

Automatic exact mappings (from CISMeF team)
- Central sleep apnoeas [ICD-11 Category]
- Chorionic somatomammotropin hormone 1 [OMIM gene]
- Cockayne syndrome a [OMIM Phenotype]
- ERCC excision repair 8, CSA ubiquitin ligase complex subunit [ORDO Gene]
- Uv-sensitive syndrome 2 [OMIM Phenotype]
- chondrosarcoma [MeSH Descriptor]
- shoulder impingement syndrome [MeSH Descriptor]
OMIM relation
- Ercc excision repair 8, csa ubiquitin ligase complex subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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