Mouse Anti-NHLRC1 Recombinant Antibody (3G6) (CBMAB-N2436-WJ)

Name: Mouse Anti-NHLRC1 Recombinant Antibody (3G6)
SKU: CBMAB-N2436-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

3G6

Application

ELISA, WB

Specificity

Human

Antibody Isotype

IgG2a, 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

Buffer

PBS, pH 7.2

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

NHL repeat containing 1

Introduction

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

Entrez Gene ID

378884

UniProt ID

Q6VVB1

Alternative Names

NHL Repeat Containing E3 Ubiquitin Protein Ligase 1; Malin; RING-Type E3 Ubiquitin Transferase NHLRC1; NHL Repeat-Containing Protein 1; NHL Repeat Containing 1; EPM2B;

Function

E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.

Biological Process

AutophagyIEA:UniProtKB-KW
Glycogen biosynthetic processTAS:Reactome
Positive regulation of protein ubiquitinationIEA:Ensembl
Proteasome-mediated ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Protein polyubiquitinationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of gene expressionIEA:Ensembl
Regulation of protein kinase activityIEA:Ensembl
Regulation of protein localization to plasma membraneIEA:Ensembl
Response to endoplasmic reticulum stressIEA:Ensembl

Cellular Location

Endoplasmic reticulum
Nucleus
Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.

Involvement in disease

Epilepsy, progressive myoclonic 2 (EPM2):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM2 is an autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 ^oCcurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.

Thongsing, A., Saifeddine, M., & Lax, D. (2022). Phenotype of Pathogenic Variant in the Gene NHLRC1 in Lafora Disease (P1-1. Virtual).

Tang, X., Li, X., Chen, Y., & Wu, D. (2022). Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease. Clinical Neurology and Neurosurgery, 218, 107255.

Faltus, C., Lahnsteiner, A., Barrdahl, M., Assenov, Y., Hüsing, A., Bogatyrova, O., ... & Risch, A. (2022). Identification of NHLRC1 as a Novel AKT Activator from a Lung Cancer Epigenome-Wide Association Study (EWAS). International Journal of Molecular Sciences, 23(18), 10699.

Mari, L., Comero, G., Mueller, E., Kuehnlein, P., & Kehl, A. (2021). NHLRC1 homozygous dodecamer expansion in a Newfoundland dog with Lafora disease. Journal of Small Animal Practice, 62(11), 1030-1032.

Haryanyan, G., Ozdemir, O., Tutkavul, K., Dervent, A., Ayta, S., Ozkara, C., ... & Bebek, N. (2021). The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. Journal of human genetics, 66(12), 1145-1151.

Afrantou, T., Lagoudaki, R., Papadopoulos, T., Karayannopoulou, G., Galidis, E., Migkos, K., ... & Grigoriadis, N. (2021). Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease. Seizure, 86, 49-51.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

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

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