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Mouse Anti-ERCC2 Recombinant Antibody (2C9) (CBMAB-A2694-LY)

The product is antibody recognizes ERCC2. The antibody 2C9 immunoassay techniques such as: WB, ELISA.
See all ERCC2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
2C9
Antibody Isotype
IgG1, κ
Application
WB, ELISA

Basic Information

Immunogen
ERCC2 (AAH08346, 1 a.a. ~ 405 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG1, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
Introduction
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]
Entrez Gene ID
2068
UniProt ID
P18074
Alternative Names
COFS2; EM9; MGC102762; MGC126218; MGC126219; TTD; XPD
Research Area
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.
Biological Process
Aging Source: Ensembl
Apoptotic process Source: UniProtKB
Bone mineralization Source: Ensembl
Cell population proliferation Source: Ensembl
Central nervous system myelin formation Source: Ensembl
Chromosome segregation Source: UniProtKB
Embryonic cleavage Source: Ensembl
Embryonic organ development Source: Ensembl
Erythrocyte maturation Source: Ensembl
Extracellular matrix organization Source: Ensembl
Hair cell differentiation Source: UniProtKB
Hair follicle maturation Source: Ensembl
Hematopoietic stem cell differentiation Source: Ensembl
In utero embryonic development Source: Ensembl
Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: Ensembl
Multicellular organism growth Source: Ensembl
Nucleotide-excision repair Source: MGI
Nucleotide-excision repair, DNA duplex unwinding Source: GO_Central
Nucleotide-excision repair, DNA incision Source: UniProtKB
Positive regulation of DNA binding Source: Ensembl
Positive regulation of mitotic recombination Source: GO_Central
Post-embryonic development Source: Ensembl
Regulation of mitotic cell cycle phase transition Source: UniProtKB
Response to hypoxia Source: Ensembl
Response to oxidative stress Source: UniProtKB
Response to UV Source: GO_Central
Spinal cord development Source: Ensembl
Transcription by RNA polymerase II Source: UniProtKB
Transcription-coupled nucleotide-excision repair Source: UniProtKB
Transcription elongation from RNA polymerase I promoter Source: Ensembl
UV protection Source: MGI
Cellular Location
Nucleus; Spindle
Involvement in disease
Xeroderma pigmentosum complementation group D (XP-D):
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.
Trichothiodystrophy 1, photosensitive (TTD1):
A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity.
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2):
A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
PTM
ISGylated.

Ura, H., Togi, S., Hatanaka, H., & Niida, Y. (2022). Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene. Stem Cell Research, 64, 102885.

Salari, N., Rasoulpoor, S., Shabani, S., Mansouri, K., Bokaee, S., Fatahian, R., ... & Hosseinian-Far, M. (2022). ERCC2 rs13181 Polymorphism Association with Glioma Risk: an Update Meta-Analysis. Indian Journal of Surgical Oncology, 1-9.

Ma, J., Shao, X., Geng, F., Liang, S., Yu, C., & Zhang, R. (2022). Ercc2/Xpd deficiency results in failure of digestive organ growth in zebrafish with elevated nucleolar stress. Iscience, 25(9), 104957.

Kapoor, S., Gustafson, T., Zhang, M., Chen, Y. S., Li, J., Nguyen, N., ... & Dashwood, R. H. (2021). Deacetylase plus bromodomain inhibition downregulates ERCC2 and suppresses the growth of metastatic colon cancer cells. Cancers, 13(6), 1438.

Duran, G., Cruz, R., Aguín, S., Barros, F., Giráldez, J. M., Bernárdez, B., ... & Lamas, M. J. (2021). Predictive value of ERCC2, ABCC2 and MMP2 of response and long-term survival in locally advanced head and neck cancer patients treated with chemoradiotherapy. Cancer Chemotherapy and Pharmacology, 88(5), 813-823.

Balkan, E., Bilici, M., Gundogdu, B., Aksungur, N., Kara, A., Yasar, E., ... & Ozturk, G. (2020). ERCC2 Lys751Gln rs13181 and XRCC2 Arg188His rs3218536 gene polymorphisms contribute to susceptibility of colon, gastric, liver, lung and prostate cancer. Journal Of Buon, 25(1), 574-81.

Zhang, H., Li, Y., Guo, S., Wang, Y., Wang, H., Lu, D., ... & Li, J. (2020). Effect of ERCC2 rs13181 and rs1799793 polymorphisms and environmental factors on the prognosis of patients with lung cancer. American journal of translational research, 12(10), 6941.

Zhao, Y., Zhao, E., Zhang, J., Chen, Y., Ma, J., & Li, H. (2019). A comprehensive evaluation of the association between polymorphisms in XRCC1, ERCC2, and XRCC3 and Prognosis in Hepatocellular Carcinoma: A Meta-Analysis. Journal of oncology, 2019.

Li, Q., Damish, A. W., Frazier, Z., Liu, D., Reznichenko, E., Kamburov, A., ... & Mouw, K. W. (2019). ERCC2 Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder CancerERCC2 Functional Profiling in Bladder Cancer. Clinical Cancer Research, 25(3), 977-988.

Li, M., Zhao, Y., Zhao, E., Wang, K., Lu, W., & Yuan, L. (2018). Predictive value of two polymorphisms of ERCC2, rs13181 and rs1799793, in clinical outcomes of chemotherapy in gastric cancer patients: a meta-analysis. Disease Markers, 2018.

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For research use only. Not intended for any clinical use.

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