NHLRC1 Rabbit anti-Human, Polyclonal, Proteintech
Rabbit Polyclonal Antibody
Manufacturer: Proteintech Group Inc 213101AP
This antibody is specific to NHLRC1.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 ft.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.
|PBS with 50% glycerol and 0.02% sodium azide; pH 7.3|
|EPM2B, MALIN, NHL repeat containing 1, NHLRC1|
|Immunohistochemistry (Paraffin), Western Blot|
|NHLRC1 Fusion Protein Ag15940|
|Antigen Affinity Chromatography|
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