NHLRC1 Antibody (Center)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, E |
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Primary Accession | Q6VVB1 |
Other Accession | NP_940988.2 |
Reactivity | Human |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 42293 Da |
Antigen Region | 149-179 aa |
Gene ID | 378884 |
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Other Names | E3 ubiquitin-protein ligase NHLRC1, 632-, Malin, NHL repeat-containing protein 1, NHLRC1, EPM2B |
Target/Specificity | This NHLRC1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 149-179 amino acids from the Central region of human NHLRC1. |
Dilution | WB~~1:1000 |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | NHLRC1 Antibody (Center) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | NHLRC1 |
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Synonyms | 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. |
Cellular Location | Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus |
Tissue Location | Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas |
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Provided below are standard protocols that you may find useful for product applications.
Background
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).
References
Moreno, D., et al. Mol. Biol. Cell 21(15):2578-2588(2010)
Rao, S.N., et al. J. Biol. Chem. 285(2):1404-1413(2010)
Traore, M., et al. Neurogenetics 10(4):319-323(2009)
Singh, S., et al. Hum. Mutat. 30(5):715-723(2009)
Vernia, S., et al. PLoS ONE 4 (6), E5907 (2009) :
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