Thermo Fisher Scientific NHLRC1 Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Target Information

Progressive myoclonic epilepsy type 2 (EPM2), also known as Lafora disease, is an autosomal recessive disorder characterized by grand mal seizures and/or myoclonus typically beginning around 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features, and survival is usually 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 mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been identified as causative. Malin (NHL repeat-containing protein 1) is a single subunit E3 ubiquitin ligase containing 6 NHL repeats and 1 RING-type zinc finger. The RING domain mediates ubiquitination. Malin interacts with and polyubiquitinates Laforin, another protein implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. It is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle, and pancreas.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.