Thermo Fisher Scientific NHLRC1 Polyclonal Antibody

Applications

Immunocytochemistry (ICC/IF)

• Tested dilution: 0.25–2 µg/mL

Product Specifications

Product Specific Information

Immunogen sequence:
TCHHTFGGWG TLVNPTGLAL CPKTGRVVVV HDGRRRVKIF DSGGGCAHQF GEKGDAAQDI RYPVDVTITN DCHVVVTD

Antigen sequence identity:
Mouse 87%; Rat 87%

Target Information

Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disorder characterized by grand mal seizures and/or myoclonus typically appearing around age 15. 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 (Lafora bodies) can be observed in brain, muscle, liver, and heart.

One cause of Lafora disease is mutations in NHLRC1, the gene encoding Malin, a single-subunit E3 ubiquitin ligase containing six NHL repeats and one RING-type zinc finger. The RING domain mediates ubiquitination, and Malin interacts with and polyubiquitinates Laforin, another protein implicated in EPM2. Malin localizes mainly 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.