Malin Antibody (3G6): sc-293401

Malin Antibody (3G6) is a mouse monoclonal IgG2a kappa light chain antibody that detects Malin protein of human origin by western blotting (WB), immunoprecipitation (IP), and enzyme-linked immunosorbent assay (ELISA). Anti-Malin antibody (3G6) is available as the non-conjugated format. Malin protein, also known as NHL repeat-containing protein 1, plays a crucial role in the ubiquitin-proteasome system, functioning as a single subunit E3 ubiquitin ligase. Malin protein is essential for the regulation of protein degradation, which is vital for maintaining cellular homeostasis and preventing the accumulation of misfolded proteins. Malin′s structure includes six NHL repeats and a RING-type zinc finger domain, with the RING domain being particularly important for ubiquitination activity. Mutations in the NHLRC1 gene, which encodes Malin, are linked to progressive myoclonic epilepsy type 2 (EPM2), also known as Lafora disease, a severe neurological disorder characterized by grand mal seizures and rapid mental deterioration. The presence of Lafora bodies, which are starch-like polyglucosans found in various tissues including the brain, muscle, liver, and heart, is a hallmark of this disease. Malin protein is predominantly localized in the endoplasmic reticulum and is expressed in several human tissues, including the brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle, and pancreas, highlighting its importance in both neuronal and non-neuronal functions.

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Malin Antibody (3G6) References:

1. Mutations in NHLRC1 cause progressive myoclonus epilepsy.  |  Chan, EM., et al. 2003. Nat Genet. 35: 125-7. PMID: 12958597
2. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.  |  Chan, EM., et al. 2004. Neurology. 63: 565-7. PMID: 15304597
3. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.  |  Gentry, MS., et al. 2005. Proc Natl Acad Sci U S A. 102: 8501-6. PMID: 15930137
4. Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.  |  Lohi, H., et al. 2005. Hum Mol Genet. 14: 2727-36. PMID: 16115820
5. Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.  |  Ianzano, L., et al. 2005. Hum Mutat. 26: 397. PMID: 16134145
6. Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.  |  Ganesh, S., et al. 2006. J Hum Genet. 51: 1-8. PMID: 16311711
7. Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.  |  Singh, S., et al. 2006. J Med Genet. 43: e48. PMID: 16950819
8. Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.  |  Mittal, S., et al. 2007. Hum Mol Genet. 16: 753-62. PMID: 17337485