| Product Name | Malin Antibody: HRP |
|---|---|
| Description | 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. . Mouse Anti-Human Malin Monoclonal IgG1 |
| Synonyms | 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 |
| Host | Mouse |
| Clone | 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. |
| Isotype | IgG1 |
| Specificity | Detects ~42kDa. |
| Reactivity | Human |
| Applications | ICC, IF, WB |
| Form | Purified, in PBS pH 7.4, 50% glycerol, 0.1% sodium azide |
| Gene Id | NP_940988.2. 378884 |
| Uniprot | Q6VVB1 |
| Supplier | Stressmarq Biosciences |
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