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NHLRC1 Rabbit anti-Human, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Marke:  Proteintech 21310-1-AP-150UL

Additional Details : Gewicht : 0.00010kg

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Artikelnummer. 16840915

  • 351.68 CHF / 150 Mikroliter

Verfügbar ab: 28-06-2022
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Beschreibung

Beschreibung

This antibody is specific to NHLRC1.

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.
Spezifikation

Spezifikation

NHLRC1
Polyclonal
Unconjugated
NHLRC1
EPM2B, MALIN, NHL repeat containing 1, NHLRC1
Rabbit
Antigen Affinity Chromatography
RUO
378884
Antibody
IgG
Immunohistochemistry (Paraffin), Western Blot
0.3 mg/mL
PBS with 50% glycerol and 0.02% sodium azide; pH 7.3
Q6VVB1
NHLRC1
NHLRC1 Fusion Protein Ag15940
150 μL
Primary
Human
Liquid
Videos
Sicherheitsdatenblatt (SDS)
Dokumentation
Zertifikate
Sonderangebote

Sonderangebote