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The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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.
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蛋白别名: E3 ubiquitin-protein ligase NHLRC1; Malin; NHL repeat containing 1; NHL repeat-containing protein 1; RING-type E3 ubiquitin transferase NHLRC1
基因别名: AI505271; B230309E09Rik; bA204B7.2; EPM2A; EPM2B; MALIN; NHLRC1
UniProt ID: (Human) Q6VVB1, (Mouse) Q8BR37, (Rat) Q6IMG5
Entrez Gene ID: (Human) 378884, (Mouse) 105193, (Rat) 364682
分子生物学功能:
ubiquitin-protein ligase
