NHLRC1 Rabbit anti-Human, Polyclonal, Proteintech

Description

• 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′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.