产品详情 |
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Antigenic Specificity | NHLRC1 |
Clone | polyclonal |
Host Species | Rabbit |
Reactive Species | human, mouse, rat |
Isotype | n/a |
Format | purified |
Size | 100 µl |
Concentration | n/a |
Applications | Immunocytochemistry: 1:50-1:200, Immunofluorescence: 1:50-1:200, Immunohistochemistry (Paraffin): 1:50-1:200, Western Blot: 1:500-1:2000 |
Reviews / Ratings | If you have used this antibody, please help fellow researchers by submitting reviews to pAbmAbs and antYbuddY. |
Description | NHLRC1 Polyclonal Antibody. 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 |
Immunogen | n/a |
Other Names | E3 ubiquitin-protein ligase NHLRC1; Malin; NHL repeat-containing protein 1; NHLRC1; EPM2B |
Gene, Accession # | Entrez: 105193, 364682, 378884; Uniprot: Q6IMG5, Q6VVB1, Q8BR37 |
Catalog # | PA5-76985 |
Price | |
Order / More Info | NHLRC1 Antibody from INVITROGEN ANTIBODIES |
Product Specific References | n/a |
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