Human excision repair cross-complementing rodent repair deficiency, complementation group 2 ELISA Kit | ERCC2 elisa kit

Human TFIIH basal transcription factor complex helicase XPD subunit, ERCC2 ELISA Kit

Cat. Num. AAA9336264

• Gene Names: ERCC2; EM9; TTD; XPD; COFS2; TFIIH
• Reactivity: Human
• Synonyms: excision repair cross-complementing rodent repair deficiency; complementation group 2; Human TFIIH basal transcription factor complex helicase XPD subunit; ERCC2 ELISA Kit; Human TFIIH basal transcription factor complex helicase XPD subunit (ERCC2) ELISA kit; COFS2; EM9; MGC102762; MGC126218; MGC126219; TTD; XPD; complementation group 2 protein; xeroderma pigmentosum complementary group D; ERCC2 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 15834617
• NCBI GeneID: 2068
• NCBI Accession #: NP_000391.1
• NCBI GenBank Nucleotide #: NM_000400.3
• UniProt Accession #: P18074; Q2TB78; Q2YDY2; Q7KZU6; Q8N721
• Molecular Weight: 86,909 Da
• NCBI Official Full Name: TFIIH basal transcription factor complex helicase XPD subunit isoform 1
• NCBI Official Synonym Full Names: excision repair cross-complementation group 2
• NCBI Official Symbol: ERCC2
• NCBI Official Synonym Symbols: EM9; TTD; XPD; COFS2; TFIIH
• NCBI Protein Information: TFIIH basal transcription factor complex helicase XPD subunit; CXPD; BTF2 p80; TFIIH p80; TFIIH 80 kDa subunit; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; basic transcription factor 2 80 kDa subunit; xeroderma pigmentosum complementary group D; xeroderma pigmentosum group D-complementing protein; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPB subunit; excision repair cross-complementing rodent repair deficiency, complementation group 2
• UniProt Protein Name: TFIIH basal transcription factor complex helicase XPD subunit
• Protein Family: TFIIH basal transcription factor complex helicase
• UniProt Gene Name: ERCC2
• UniProt Synonym Gene Names: XPD; XPDC; BTF2 p80; TFIIH 80 kDa subunit; TFIIH p80
• UniProt Entry Name: ERCC2_HUMAN

NCBI Description

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. [provided by RefSeq, Aug 2008]

Uniprot Description

ERCC2: ATP-dependent 5'-3' DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. Might also have a role in aging process and could play a causative role in the generation of skin cancers. Belongs to the helicase family. RAD3/XPD subfamily. One of the six subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. The interaction with GTF2H2 results in the stimulation of the 5'-->3' helicase activity. Interacts with Epstein-Barr virus EBNA2.

Protein type: Helicase; EC 3.6.4.12

Chromosomal Location of Human Ortholog: 19q13.3

Cellular Component: nucleoplasm; holo TFIIH complex; cytoplasm; spindle; nucleus; cyclin-dependent protein kinase activating kinase holoenzyme complex

Molecular Function: RNA polymerase subunit kinase activity; ATP-dependent DNA helicase activity; protein C-terminus binding; DNA-dependent ATPase activity; protein binding; DNA binding; metal ion binding; 4 iron, 4 sulfur cluster binding; protein N-terminus binding; 5'-3' DNA helicase activity; ATP binding; protein kinase activity

Biological Process: transcription from RNA polymerase II promoter; extracellular matrix organization and biogenesis; erythrocyte maturation; viral reproduction; positive regulation of viral transcription; apoptosis; positive regulation of transcription, DNA-dependent; regulation of gene expression, epigenetic; protein amino acid phosphorylation; bone mineralization; embryonic cleavage; post-embryonic development; chromosome segregation; mRNA capping; UV protection; negative regulation of gene expression, epigenetic; transcription-coupled nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; positive regulation of DNA binding; aging; transcription initiation from RNA polymerase II promoter; in utero embryonic development; multicellular organism growth; RNA elongation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; hair cell differentiation; nucleotide-excision repair, DNA incision; DNA repair; termination of RNA polymerase I transcription; hair follicle maturation; DNA duplex unwinding; cell proliferation; myelin formation in the central nervous system; nucleotide-excision repair; spinal cord development; RNA elongation from RNA polymerase II promoter; response to hypoxia; gene expression; positive regulation of transcription from RNA polymerase II promoter; response to oxidative stress; transcription initiation from RNA polymerase I promoter

Disease: Cerebrooculofacioskeletal Syndrome 2; Xeroderma Pigmentosum, Complementation Group D; Trichothiodystrophy, Photosensitive