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Mouse Anti-NTHL1 Recombinant Antibody (CBWJN-1570) (CBMAB-N3740-WJ)

This product is a Mouse antibody that recognizes NTHL1. The antibody CBWJN-1570 can be used for immunoassay techniques such as: WB.
See all NTHL1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBWJN-1570
Antibody Isotype
IgG1
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
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
Lyophilized
Buffer
PBS, Trehalose
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Nth Like Dna Glycosylase 1
Introduction
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
Entrez Gene ID
4913
UniProt ID
P78549
Alternative Names
Nth Like DNA Glycosylase 1; Bifunctional DNA N-Glycosylase/DNA-(Apurinic Or Apyrimidinic Site) Lyase; DNA Glycosylase/AP Lyase; OCTS3; HNTH1; NTH1; Bifunctional DNA N-Glycoslyase/DNA-(Apurinic Or Apyrimidinic Site) Lyase; Nth Endonuclease III-Like 1 (E. Coli);
Function
Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:9927729).
The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.
Biological Process
Base-excision repair, AP site formationManual Assertion Based On ExperimentIDA:UniProtKB
DepyrimidinationTAS:Reactome
Nucleotide-excision repair, DNA incision, 5'-to lesionManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Nucleus
Mitochondrion
Involvement in disease
Familial adenomatous polyposis 3 (FAP3):
A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

Salo-Mullen, E. E., Maio, A., Mukherjee, S., Bandlamudi, C., Shia, J., Kemel, Y., ... & Stadler, Z. K. (2021). Prevalence and characterization of biallelic and monoallelic NTHL1 and MSH3 variant carriers from a pan-cancer patient population. JCO precision oncology, 5, 455-465.

Magrin, L., Fanale, D., Brando, C., Fiorino, A., Corsini, L. R., Sciacchitano, R., ... & Bazan, V. (2021). POLE, POLD1, and NTHL1: The last but not the least hereditary cancer-predisposing genes. Oncogene, 40(40), 5893-5901.

Carroll, B. L., Zahn, K. E., Hanley, J. P., Wallace, S. S., Dragon, J. A., & Doublié, S. (2021). Caught in motion: human NTHL1 undergoes interdomain rearrangement necessary for catalysis. Nucleic Acids Research, 49(22), 13165-13178.

Das, L., Quintana, V. G., & Sweasy, J. B. (2020). NTHL1 in genomic integrity, aging and cancer. DNA repair, 93, 102920.

Kuiper, R. P., Nielsen, M., De Voer, R. M., & Hoogerbrugge, N. (2020). NTHL1 tumor syndrome.

Grolleman, J. E., De Voer, R. M., Elsayed, F. A., Nielsen, M., Weren, R. D., Palles, C., ... & Kuiper, R. P. (2019). Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype. Cancer cell, 35(2), 256-266.

Belhadj, S., Quintana, I., Mur, P., Munoz-Torres, P. M., Alonso, M. H., Navarro, M., ... & Valle, L. (2019). NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. Scientific Reports, 9(1), 9020.

Terradas, M., Munoz‐Torres, P. M., Belhadj, S., Aiza, G., Navarro, M., Brunet, J., ... & Valle, L. (2019). Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐and MSH3‐associated polyposes. Human Mutation, 40(11), 1910-1923.

Groves, A., Gleeson, M., & Spigelman, A. D. (2019). NTHL1-associate polyposis: first Australian case report. Familial cancer, 18(2), 179-182.

Altaraihi, M., Gerdes, A. M., & Wadt, K. (2019). A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis. Human Genome Variation, 6(1), 46.

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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