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Mouse Anti-NPRL3 Recombinant Antibody (4E6) (CBMAB-A0938-LY)

The product is antibody recognizes C16orf35. The antibody 4E6 immunoassay techniques such as: WB, ELISA.
See all NPRL3 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Rat
Clone
4E6
Antibody Isotype
IgG2b, κ
Application
WB, ELISA

Basic Information

Immunogen
C16orf35 (NP_036207, 470 a.a. ~ 568 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human, Rat
Antibody Isotype
IgG2b, 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
nitrogen permease regulator-like 3
Entrez Gene ID
Human8131
Rat360505
UniProt ID
HumanQ12980
RatQ499Q8
Alternative Names
CGTHBA
Function
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.
Biological Process
Aorta morphogenesisIEA:Ensembl
Cardiac muscle tissue developmentIEA:Ensembl
Cellular response to amino acid starvationManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of TOR signalingManual Assertion Based On ExperimentIMP:SGD
Negative regulation of TORC1 signalingManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of autophagyManual Assertion Based On ExperimentIBA:GO_Central
Roof of mouth developmentIEA:Ensembl
TORC1 signalingManual Assertion Based On ExperimentIBA:GO_Central
Ventricular septum developmentIEA:Ensembl
Cellular Location
Lysosome membrane
Localization to lysosomes is amino acid-independent.
Involvement in disease
Epilepsy, familial focal, with variable foci 3 (FFEVF3):
An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete.

Hu, J., Gao, X., Chen, L., Kan, Y., Du, Z., Xin, S., ... & Cao, L. (2023). Identification of two rare NPRL3 variants in two Chinese families with familial focal epilepsy with variable foci 3: NGS analysis with literature review. Frontiers in Genetics, 13, 1054567.

Dainelli, A., Iacomino, M., Rossato, S., Bugin, S., Traverso, M., Severino, M., ... & Striano, P. (2023). Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review. Epilepsia Open, 8(4), 1314-1330.

Iffland, P. H., Everett, M. E., Cobb-Pitstick, K. M., Bowser, L. E., Barnes, A. E., Babus, J. K., ... & Crino, P. B. (2022). NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold. Brain, 145(11), 3872-3885.

Ishida, S., Zhao, D., Sawada, Y., Hiraoka, Y., Mashimo, T., & Tanaka, K. (2022). Dorsal telencephalon-specific Nprl2-and Nprl3-knockout mice: novel mouse models for GATORopathy. Human Molecular Genetics, 31(9), 1519-1530.

Fang, Y., Jiang, Q., Li, S., Zhu, H., Xu, R., Song, N., ... & Hu, G. (2021). Opposing functions of β-arrestin 1 and 2 in Parkinson’s disease via microglia inflammation and Nprl3. Cell Death & Differentiation, 28(6), 1822-1836.

Li, Y., Zhao, X., Wang, S., Xu, K., Zhao, X., Huang, S., & Zhu, S. (2021). A novel loss-of-function mutation in the NPRL3 gene identified in Chinese familial focal epilepsy with variable foci. Frontiers in Genetics, 12, 766354.

Chandrasekar, I., Tourney, A., Loo, K., Carmichael, J., James, K., Ellsworth, K. A., ... & Joseph, M. (2021). Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: a case report. American Journal of Medical Genetics Part A, 185(7), 2126-2130.

Zou, Z., Wang, Q., Zhou, M., Li, W., Zheng, Y., Li, F., ... & He, Z. (2020). Protective effects of P2X7R antagonist in sepsis‐induced acute lung injury in mice via regulation of circ_0001679 and circ_0001212 and downstream Pln, Cdh2, and Nprl3 expression. The journal of gene medicine, 22(12), e3261.

Vawter-Lee, M., Franz, D. N., Fuller, C. E., & Greiner, H. M. (2019). Clinical Letter: A case report of targeted therapy with sirolimus for NPRL3 epilepsy. Seizure, 73, 43-45.

Canavati, C., Klein, K. M., Afawi, Z., Pendziwiat, M., Abu Rayyan, A., Kamal, L., ... & Kanaan, M. (2019). Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL 3 pathogenic variants in familial focal epilepsy with variable foci. Epilepsia, 60(6), e67-e73.

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

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