Immunohistochemistry (IHC)
(Immunohistochemistry of paraffin-embedded human heart using MBS7601959 (NHLRC1 antibody) at dilution of 1:50)
Rabbit anti-Human NHLRC1 Polyclonal Antibody | anti-NHLRC1 antibody
NHLRC1 Rabbit Polyclonal
Immunogen Affinity Purified
Immunogen Affinity Purified
Immunohistochemistry (IHC)
(Immunohistochemistry of paraffin-embedded human heart using MBS7601959 (NHLRC1 antibody) at dilution of 1:50)
Immunohistochemistry (IHC)
(Immunohistochemistry of paraffin-embedded human heart using MBS7601959 (NHLRC1 antibody) at dilution of 1:50)
Western Blot (WB)
(L02 cells were subjected to SDS PAGE followed by western blot with MBS7601959 (NHLRC1 antibody) at dilution of 1:400)
Western Blot (WB)
(L02 cells were subjected to SDS PAGE followed by western blot with MBS7601959 (NHLRC1 antibody) at dilution of 1:400)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
NHLRC1: E3 ubiquitin-protein ligase which 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 PPP1R3C/PTG in a laforin-dependent manner, and targets it for proteasome-dependent degradation and this degradation decreases glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Defects in NHLRC1 are a cause of progressive myoclonic epilepsy type 2 (EPM2); also known as Lafora disease. 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.
Protein type: EC 6.3.2.19; Ubiquitin conjugating system; Ligase; EC 6.3.2.-; Ubiquitin ligase
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component: cytosol; endoplasmic reticulum; nucleus; perinuclear region of cytoplasm
Molecular Function: ligase activity; protein binding; ubiquitin-protein ligase activity; zinc ion binding
Biological Process: autophagy; glycogen biosynthetic process; positive regulation of protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; protein polyubiquitination
Disease: Myoclonic Epilepsy Of Lafora
Research Articles on NHLRC1
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Product Notes
The NHLRC1 nhlrc1 (Catalog #AAA7601959) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The NHLRC1 Rabbit Polyclonal reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's NHLRC1 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC). Researchers should empirically determine the suitability of the NHLRC1 nhlrc1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "NHLRC1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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