Preferred Label : ERCC2 wt Allele;
NCIt synonyms : EM9; MAG; CXPD; ERCC2; XP4; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group
2 Gene; XPDC; XP, Group D; XPD; XPD Gene; TTD1; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group
2 (Xeroderma Pigmentosum D) Gene; MGC102762; COFS2; MGC126218; MGC126219; Excision-Repair, Complementing Defective, In Chinese Hamster, 2 Gene; ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit wt Allele; TTD; DNA Repair Defect EM9 of Chinese Hamster Ovary Cells, Complementation of Gene; Xeroderma Pigmentosum Complementary Group D Gene; Excision Repair Cross-Complementation Group 2 Gene;
NCIt definition : Human ERCC2 wild-type allele is located in the vicinity of 19q13.3 and is approximately
19 kb in length. This allele, which encodes general transcription and DNA repair factor
IIH helicase subunit XPD protein, is involved in transcription-coupled nucleotide
excision repair. Defects in this allele can result in three different disorders, xeroderma
pigmentosum complementation group D, trichothiodystrophy and Cockayne syndrome.;
GenBank Accession Number : NM_000400;
Origin ID : C50981;
UMLS CUI : C1705972;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
