Anti-NHLRC1/Malin Monoclonal Antibody for WB, IF/ICC, ELISA - Q6VVB1

Core Product Specifications and Parameters

Biological Background: NHLRC1/Malin Function and Localization

• NHLRC1, also known as Malin or EPM2B, is an E3 ubiquitin-protein ligase containing NHL repeats and a RING-type zinc finger domain.
• Together with the phosphatase EPM2A/laforin, it forms a complex that targets misfolded proteins and glycogen metabolism regulators for ubiquitin-proteasome degradation, thereby preventing toxic polyglucosan accumulation.
• Key ubiquitination substrates include EPM2A/laforin itself, the glycogen-targeting phosphatase subunits PPP1R3C/PTG and PPP1R3D, and the glycogen debranching enzyme AGL, all directed to proteasomal degradation in a laforin-dependent manner.
• Malin also promotes degradation of protein aggregates through the macroautophagy pathway, independent of the proteasome, highlighting its role in cellular protein quality control.
• Subcellularly, NHLRC1 localizes to the endoplasmic reticulum and nucleus, consistent with its involvement in glycogen metabolism and protein degradation.
• Tissue expression is broad, with protein detected in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle, and pancreas, underscoring its physiological importance.
• Mutations in NHLRC1 are linked to Lafora disease, a fatal neurodegenerative disorder characterized by progressive myoclonus epilepsy, emphasizing its critical role in neuronal homeostasis.
• Keywords: Autophagy, Disease variant, Endoplasmic reticulum, Epilepsy, Metal-binding, Neurodegeneration, Nucleus, Ubl conjugation pathway, Zinc-finger.

Experimental Guidance and Technical Tips

• The immunogen corresponds to amino acids 79-280 of human NHLRC1 (NP_940988.2), a region encompassing part of the N-terminal domain and the NHL repeats; this design may confer specificity to full-length Malin.
• For Western blotting, a band of approximately 42 kDa is expected in human cell or tissue lysates; consider using appropriate loading controls and verifying band specificity with knockdown or knockout samples.
• In immunofluorescence/ICC, fixation and permeabilization protocols should be optimized to detect both endoplasmic reticulum and nuclear pools; co-staining with organelle markers can confirm localization.
• ELISA applications may benefit from pairing this antibody with a detection antibody recognizing a distinct epitope; assay conditions (e.g., coating concentration, blocking) should be empirically determined.

CamelBio: Your One-Stop Sourcing Bridge

CamelBio is your integrated partner for IVD raw materials, offering validated monoclonal antibodies, recombinant proteins, and ancillary reagents to accelerate diagnostic development. With expertise in rare targets like NHLRC1/Malin, we support neurodegenerative disease and epilepsy research from concept to clinic. Our one-stop supply chain ensures consistent quality and scalability for your antibody-based assays.