NHL repeat containing 1, ELISA Kit

Human E3 ubiquitin-protein ligase NHLRC1 (NHLRC1) ELISA kit; EPM2A; EPM2B; MALIN; MGC119262; MGC119264; MGC119265; bA204B7.2; epilepsy; progressive myoclonus type 2B; NHL repeat containing 1

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of NHLRC1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9329125 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the NHL repeat containing 1 (NHLRC1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing NHLRC1. The ELISA analytical biochemical technique of the MBS9329125 kit is based on NHLRC1 antibody-NHLRC1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect NHLRC1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, NHLRC1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

42,293 Da

NHL repeat containing E3 ubiquitin protein ligase 1

E3 ubiquitin-protein ligase NHLRC1; NHL repeat containing 1; NHL repeat-containing protein 1

E3 ubiquitin-protein ligase NHLRC1

EPM2B  [Similar Products]

NHLC1_HUMAN

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]

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: Ligase; Ubiquitin ligase; Ubiquitin conjugating system; EC 6.3.2.19; EC 6.3.2.-

Chromosomal Location of Human Ortholog: 6p22.3

Cellular Component: endoplasmic reticulum; perinuclear region of cytoplasm; cytosol; nucleus

Molecular Function: protein binding; zinc ion binding; ubiquitin-protein ligase activity; ligase activity

Biological Process: proteasomal ubiquitin-dependent protein catabolic process; glycogen biosynthetic process; protein polyubiquitination; positive regulation of protein ubiquitination; carbohydrate metabolic process; glucose metabolic process; autophagy; pathogenesis

Disease: Myoclonic Epilepsy Of Lafora

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