Thermo Fisher Scientific NHLRC1 Polyclonal Antibody

Applications and Tested Dilutions

Product Specifications

Product Specific Information

The antibody was affinity-purified from rabbit antiserum by affinity chromatography using epitope-specific immunogen. The purity is greater than 95% as determined by SDS-PAGE.

Target Information

Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive neurodegenerative disorder characterized by grand mal seizures and/or myoclonus typically beginning around 15 years of age. The disease progresses rapidly with severe cognitive decline and psychotic features, leading to death within 10 years after onset.

Lafora disease is caused by mutations in the NHLRC1 gene, which encodes Malin, a single subunit E3 ubiquitin ligase containing six NHL repeats and one RING-type zinc finger domain. Malin mediates ubiquitination via its RING domain and interacts with Laforin, another protein implicated in EPM2. Malin localizes mainly to the endoplasmic reticulum and, to a lesser extent, 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.