Xeroderma Pigmentosum, Complementation Group D (XPD) 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: 19q13.32

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

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

Biological Process: 7-methylguanosine mRNA capping; aging; apoptosis; bone mineralization; cell proliferation; chromosome segregation; embryonic cleavage; embryonic organ development; erythrocyte maturation; extracellular matrix organization; hair cell differentiation; hair follicle maturation; in utero embryonic development; multicellular organism growth; myelin formation in the central nervous system; nucleotide-excision repair; nucleotide-excision repair, DNA duplex unwinding; nucleotide-excision repair, DNA incision; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, preincision complex assembly; nucleotide-excision repair, preincision complex stabilization; positive regulation of DNA binding; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; post-embryonic development; protein amino acid phosphorylation; response to hypoxia; response to oxidative stress; RNA elongation from RNA polymerase I promoter; spinal cord development; termination of RNA polymerase I transcription; transcription elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase I promoter; transcription initiation from RNA polymerase II promoter; transcription-coupled nucleotide-excision repair; UV protection; viral process

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