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Mouse Anti-NHLRC1 Recombinant Antibody (CBFYM-3030) (CBMAB-M3226-FY)

This product is mouse antibody that recognizes NHLRC1. The antibody CBFYM-3030 can be used for immunoassay techniques such as: WB, IP, ELISA.
See all NHLRC1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-3030
Application
WB, IP, ELISA

Basic Information

Specificity
Human
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
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
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.
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.
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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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