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Antibodies Inc
Malin Monoclonal Antibody (N85/18), FL550
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产品信息
75-128-FL550
产品规格
种属反应
Human,
Mouse,
Non-human primate,
Rat
宿主/亚型
Mouse
/ IgG1
分类
Monoclonal
类型
Antibody
克隆号
N85/18
抗原
Fusion protein amino acids 1-395 (full-length) of human malin (accession number AAQ19671) produced recombinantly in E. Coli.
偶联物
激发/发射光谱
550/575 nm
形式
Liquid
浓度
0.5 mg/mL
纯化类型
Protein A
保存液
PBS
内含物
0.09% sodium azide
保存条件
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
运输条件
Ambient (domestic); Dry ice (international)
产品详细信息
For maximum recovery of product, centrifuge the vial prior to removing the cap.
靶标信息
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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生物信息学
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) Q6IMH1, (Mouse) Q8BR37, (Rat) Q6IMG5
Entrez Gene ID: (Human) 378884, (Mouse) 105193, (Rat) 364682
ubiquitin-protein transferase activity
protein binding
zinc ion binding
ligase activity
ubiquitin protein ligase activity
UDP-N-acetylmuramoylalanyl-D-glutamyl-2,6-diaminopimelate-D-alanyl-D-alanine ligase activity
ribosomal S6-glutamic acid ligase activity
coenzyme F420-0 gamma-glutamyl ligase activity
coenzyme F420-2 alpha-glutamyl ligase activity
metal ion binding
protein-glycine ligase activity
protein-glycine ligase activity, initiating
protein-glycine ligase activity, elongating
tubulin-glycine ligase activity
protein-glutamic acid ligase activity
tubulin-glutamic acid ligase activity
ubiquitin-protein ligase
