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| 应用 | 建议稀释比 | 已发表文章 |
|---|---|---|
免疫印迹 (WB) |
1:500-1:2,000 | - |
免疫组化（石蜡） (IHC (P)) |
1:50-1:200 | - |
免疫细胞化学 (ICC/IF) |
1:50-1:200 | - |
| 产品规格 | |
|---|---|
种属反应 |
Human, Mouse, Rat |
宿主/亚型 |
Rabbit / IgG |
分类 |
Polyclonal |
类型 |
Antibody |
抗原 |
Recombinant full length Human NHLRC1. |
偶联物 |
Unconjugated |
形式 |
Liquid |
浓度 |
1 mg/mL |
纯化类型 |
Antigen affinity chromatography |
保存液 |
PBS, pH 7.2, with 50% glycerol |
内含物 |
0.1% sodium azide |
保存条件 |
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles. |
RRID |
AB_2720712 |
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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
