Preferred Label : General Transcription and DNA Repair Factor IIH Helicase Subunit XPD;
NCIt synonyms : DNA-Repair Protein XPD; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group
2 Protein; BTF2 p80; Xeroderma Pigmentosum Group D-Complementing Protein; TFIIH 80 kDa Subunit; Xeroderma Pigmentosum Group D Complementing Protein; DNA Excision Repair Protein-ERCC2; Basic Transcription Factor 2 80 kDa Subunit; TFIIH Basal Transcription Factor Complex 80 kDa Subunit; CXPD; DNA-Repair Protein Complementing XP-D Cells; ERCC2; DNA Excision Repair Protein ERCC-2; EC 3.6.1.-; DNA Repair Protein Complementing XP-D Cells; TFIIH p80;
NCIt related terms : TFIIH Basal Transcription Factor Complex Helicase XPD Subunit;
NCIt definition : General transcription and DNA repair factor IIH helicase subunit XPD (760 aa, 87
kDa) is encoded by the human ERCC2 gene. This protein plays a role in DNA helicase
activity, RNA polymerase II-mediated transcription and nucleotide excision repair.;
NCIt note : TFIIH basal transcription factor complex helicase XPD subunit is an ATP-dependent
5 prime-3 prime DNA helicase and one of six integral subunits of the basal transcription
factor BTF2/TFIIH complex. Recruited by transcription preinitiation or DNA damage
recognition complexes, ERCC2 is involved in RNA polymerase II transcription, transcription-coupled
nucleotide excision DNA repair, and cell cycle regulation. ERCC2/MAT1 anchors CAK
complex to the TFIIH complex. CAK inhibits ERCC2 helicase activity; overcome by binding
TFIIH subunit p44, which stimulates helicase activity. ERCC2 defects result in XPD,
XPD/CS, TTD, and COFS Syndrome.;
Origin ID : C21446;
UMLS CUI : C0168552;
OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_associated_anatomy
- gene_product_has_biochemical_function
- gene_product_has_gene_product_variant
- gene_product_has_organism_source
- gene_product_has_structural_domain_or_motif
- gene_product_is_element_in_pathway
- gene_product_is_physical_part_of
- gene_product_malfunction_associated_with_disease
- gene_product_plays_role_in_biological_process
