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
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.
Product Notes
The NHLRC1 nhlrc1 (Catalog #
AAA6448002) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The NHLRC1 (NHL Repeat-containing Protein 1, EPM2A, EPM2B, MALIN, bA204B7.2) (FITC) 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, Immunohistochemistry (IHC), Immunofluorescence (IF), Western Blot (WB). IHC: 1:50-1:200 IF: 1:50-1:200 WB: 1:500-1:2000 Applications are based on unconjugated antibody. 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.
