Thermo Fisher Scientific NHLRC1 Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Product Specific Information

Antibody tested in Indirect ELISA.

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 around 15 years of age, followed by rapid mental deterioration with psychotic features. Survival is typically less than 10 years after onset. Lafora bodies—starch-like polyglucosans associated with the endoplasmic reticulum—are found in brain, muscle, liver, and heart.
Mutations in NHLRC1, which encodes the E3 ubiquitin ligase Malin, are one cause of Lafora disease. Malin contains six NHL repeats and one RING-type zinc finger, mediating ubiquitination activity. It interacts with and polyubiquitinates Laforin, another protein implicated in EPM2. Malin localizes mainly to the endoplasmic reticulum and partially in the nucleus, and 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.