ERCC2 Antibody – Rabbit Polyclonal

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]

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: EC 3.6.4.12; Helicase

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; protein amino acid phosphorylation; regulation of gene expression, epigenetic; bone mineralization; embryonic cleavage; chromosome segregation; post-embryonic development; mRNA capping; UV protection; negative regulation of gene expression, epigenetic; transcription-coupled nucleotide-excision repair; nucleotide-excision repair, DNA damage removal; aging; positive regulation of DNA binding; transcription initiation from RNA polymerase II promoter; in utero embryonic development; multicellular organism growth; nucleotide-excision repair, DNA incision; hair cell differentiation; RNA elongation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; DNA repair; hair follicle maturation; termination of RNA polymerase I transcription; 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; positive regulation of transcription from RNA polymerase II promoter; gene expression; response to oxidative stress; transcription initiation from RNA polymerase I promoter

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