84-4393-89　［取扱停止］NHLRC1 (E3 Ubiquitin-Protein Ligase NHLRC1, Malin, NHL Repeat-containing Protein 1, EPM2B) 100ul　360871

特徴

• 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.
• Applications:Suitable for use in Immunofluorescence,, Western Blot, Immunohistochemistry.
• Other applications not tested.
• Recommended Dilution:Immunofluorescence: 1:50-1:200Western Blot: 1:50-1:2000Immunohistochemistry: 1:50-1:200Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.