Application
| WB, ICC |
---|---|
Primary Accession | Q6VVB1 |
Other Accession | NP_940988.2 |
Host | Mouse |
Isotype | IgG1 |
Reactivity | Human |
Clonality | Monoclonal |
Description | Mouse Anti-Human Malin Monoclonal IgG1 |
Target/Specificity | Detects ~42kDa. |
Other Names | E3 ubiquitin-protein ligase NHLRC1 Antibody, NHLRC 1 Antibody, NHL repeat containing 1 Antibody, EPM2A Antibody, EPM2B Antibody, MGC119262 Antibody, MGC119264 Antibody, MGC119265 Antibody, NHL repeat containing protein 1 Antibody |
Clone Names | S85-18 |
Immunogen | Fusion protein amino acids 2-125 (N-terminus encompassing RING domain) of human Malin. 86% identical to rat, and 77% identical to mouse. |
Purification | Protein G Purified |
Storage | -20ºC |
Storage Buffer | PBS pH 7.4, 50% glycerol, 0.1% sodium azide |
Shipping Temperature | Blue Ice or 4ºC |
Certificate of Analysis | 1 µg/ml of SMC-444 was sufficient for detection of malin in 20 µg of transiently (malin) transfected COS cell lysate by colorimetric immunoblot analysis using Goat anti-mouse IgG:HRP as the secondary antibody. |
Cellular Localization | Endoplasmic Reticulum | Nucleus |
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Background
Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disease characterized by grand mal seizures and/or myoclonus at about 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features. Survival is less than 10 years after onset. Starch-like, endoplasmic reticulum-associated polyglucosans, called Lafora bodies, can be observed in brain, muscle, liver and heart. One cause of Lafora disease is due to mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been shown to cause EPM2. Malin, also called NHL repeat-containing protein 1, is a single subunit E3 ubiquitin ligase, containing 6 NHL repeats and 1 RING-type zinc finger. Malin’s RING domain is responsible for its ability to mediate ubiquitination. Malin interacts with and polyubiquitinates Laforin, a protein also implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. Malin is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.
References
1. Chan E.M, et al. (2003) Nat. Genet. 35:125-127.
2. Worby C.A, et al. (2008) J. Biol. Chem. 283:4069-4076.
3. Gomez-Abad C, et al. (2005) Neurology. 64:982-986.