ERCC5 wt Allele

Preferred Label : ERCC5 wt Allele;

NCIt synonyms : UVDR; XPG; Excision-Repair, Complementing Defective, In Chinese Hamster, 5 Gene; XPGC; XPGC Gene; XPG Gene; UVDR Gene; ERCM2; ERCM2 Gene; UV Damage, Excision Repair of, UV-135 Gene; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5 (Xeroderma Pigmentosum, Complementation Group G (Cockayne syndrome)) Gene; Cockayne Syndrome Gene; RAD2, Yeast, Homolog of Gene; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5 Gene; COFS3; ERCC Excision Repair 5, Endonuclease wt Allele;

NCIt definition : Human ERCC5 wild-type allele is located in the vicinity of 13q33.1 and is approximately 30 kb in length. This allele, which encodes DNA-repair protein complementing XP-G cells protein, is involved in the transcription-coupled repair of ultraviolet-induced DNA damage.;

GenBank Accession Number : NM_000123;

Details

Origin ID

C50984;

UMLS CUI

C1705470;

OMIM relation
- Ercc excision repair 5, endonuclease [OMIM gene]
See also inter- (CISMeF)
- Cerebrooculofacioskeletal syndrome 3 [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_associated_with_disease
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cockayne Syndrome [NCIt concept]
- Xeroderma Pigmentosum, Complementation Group G [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 13: 102296421-102326346 [NCIt concept]
gene_in_chromosomal_location
- 13q33 [NCIt concept]
gene_is_element_in_pathway
- Nucleotide Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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