ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit Peptide 1

CPTC-ERCC2-1

ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit Peptide 1

IgG

Rabbit Monoclonal Antibody

02/06/2024

Peptide, Endogenous

00364

ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit Peptide 1

CPTC-ERCC2 Peptide 1

Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 2; General Transcription And DNA Repair Factor IIH Helicase Subunit XPD; TFIIH Basal Transcription Factor Complex Helicase XPB Subunit; TFIIH Basal Transcription Factor Complex 80 KDa Subunit; Xeroderma Pigmentosum Group D-Complementing Protein; Excision Repair Cross-Complementation Group 2; Xeroderma Pigmentosum Complementary Group D; DNA Repair Protein Complementing XP-D Cells; Basic Transcription Factor 2 80 KDa Subunit; DNA Excision Repair Protein ERCC-2; TFIIH 80 KDa Subunit; TFIIH Subunit XPD; TFIIH P80; BTF2 P80; CXPD; EM9; XPD; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 2 Protein; TFIIH Basal Transcription Factor Complex Helicase XPD Subunit; TFIIH Basal Transcription Factor Complex Helicase Subunit; EC 3.6.4.12; MGC102762; MGC126218; MGC126219; EC 3.6.1; COFS2; TFIIH; ERCC2; TTD1; XPDC; TTD; MAG

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.ERCC2 functions as a DNA repair gene involved in separating the double helix via 5’-3’ helicase activity. It forms a part of the transcription factor II Human (TFIIH) complex and is ATP-dependent. The TFIIH complex is known to be involved in the nucleotide excision repair pathway (NER) which can repair DNA damage caused by chemotherapeutic treatment and basal transcription. ERCC2 variants have been observed in a variety of cancers. A number of studies have suggested ERCC2 variants can act as biomarkers to predict response to neoadjuvant treatment, and cancer prognosis. Additionally the Lys751Gln polymorphism has been observed to increase risk in a number of cancer types; however, results have been conflicting.ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) is a Protein Coding gene. Diseases associated with ERCC2 include Xeroderma Pigmentosum, Complementation Group D and Cerebrooculofacioskeletal Syndrome 2. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein C-terminus binding. An important paralog of this gene is RTEL1.ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.

NP_000391.1

P18074

N/A

Synthetic Peptide

N/A

1650

09/02/2020