Search
Disclaimer
Clicking the images or links will redirect you to a website hosted by BenchSci that provides third-party scientific content. Neither the content nor the BenchSci technology and processes for selection have been evaluated by us; we are providing them as-is and without warranty of any kind, including for use or application of the Thermo Fisher Scientific products presented.
Proteintech
NHLRC1 Polyclonal Antibody
{{$productOrderCtrl.translations['antibody.pdp.commerceCard.promotion.promotions']}}
{{$productOrderCtrl.translations['antibody.pdp.commerceCard.promotion.viewpromo']}}
{{$productOrderCtrl.translations['antibody.pdp.commerceCard.promotion.promocode']}}: {{promo.promoCode}} {{promo.promoTitle}} {{promo.promoDescription}}. {{$productOrderCtrl.translations['antibody.pdp.commerceCard.promotion.learnmore']}}
产品信息
21310-1-AP
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
NHLRC1 Fusion Protein Ag15940 (86-395 aa encoded by BC103888)
偶联物
形式
Liquid
浓度
0.3 mg/mL
纯化类型
Antigen affinity chromatography
保存液
PBS, pH 7.3, with 50% glycerol
内含物
0.02% sodium azide
保存条件
-20°C
运输条件
Wet ice (domestic); Dry ice (international)
产品详细信息
This antibody is specific to NHLRC1.
Immunogen sequence: VLHLIELLG SALRQSPAAH RAAPSAPGAL TCHHTFGGWG TLVNPTGLAL CPKTGRVVVV HDGRRRVKIF DSGGGCAHQF GEKGDAAQDI RYPVDVTITN DCHVVVTDAG DRSIKVFDFF GQIKLVIGGQ FSLPWGVETT PQNGIVVTDA EAGSLHLLDV DFAEGVLRRT ERLQAHLCNP RGVAVSWLTG AIAVLEHPLA LGTGVCSTRV KVFSSSMQLV GQVDTFGLSL YFPSKITASA VTFDHQGNVI VADTSGPAIL CLGKPEEFPV PKPMVTHGLS HPVALTFTKE NSLLVLDTAS HSIKVYKVDW G (86-395 aa encoded by BC103888)
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
篇参考文献 (0)
您是否在文献中引用过该产品？请点击下方按钮邮件告知我们。
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: bA204B7.2; EPM2A; EPM2B; MALIN; NHLRC1
UniProt ID: (Human) Q6IMH1
Entrez Gene ID: (Human) 378884
