NHLRC1 anticorps

N° du produit ABIN1387027

Détail du produit anti-NHLRC1 anticorps

Antigène: NHLRC1 (NHL Repeat Containing 1 (NHLRC1))

Reactivité: Humain, Rat, Souris

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp NHLRC1 est non-conjugé

Application: Western Blotting (WB), Immunofluorescence (Paraffin-embedded Sections) (IF (p)), Immunohistochemistry (Paraffin-embedded Sections) (IHC (p))

Réactivité croisée: Humain, Souris, Rat

Purification: Purified by Protein A.

Immunogène: KLH conjugated synthetic peptide derived from human NHLRC1

Isotype: IgG

Information d'application

Indications d'application: WB 1:300-5000
IHC-P 1:200-400
IF(IHC-P) 1:50-200

Restrictions: For Research Use only

Stockage

Format: Liquid

Concentration: 1 μg/μL

Buffer: 0.01M TBS( pH 7.4) with 1 % BSA, 0.02 % Proclin300 and 50 % Glycerol.

Agent conservateur: ProClin

Précaution d'utilisation: This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.

Stock: 4 °C,-20 °C

Stockage commentaire: Shipped at 4°C. Store at -20°C for one year. Avoid repeated freeze/thaw cycles.

Date de péremption: 12 months

Détails sur NHLRC1

Antigène: NHLRC1 (NHL Repeat Containing 1 (NHLRC1))

Autre désignation: NHLRC1 (NHLRC1 Produits)

Synonymes: anticorps EPM2A, anticorps EPM2B, anticorps MALIN, anticorps bA204B7.2, anticorps AI505271, anticorps B230309E09Rik, anticorps Epm2b, anticorps malin-like, anticorps NHL repeat containing E3 ubiquitin protein ligase 1, anticorps NHL repeat containing 1, anticorps NHLRC1, anticorps Nhlrc1

Sujet:

Synonyms: E3 ubiquitin-protein ligase NHLRC1, EPM2A, EPM2B, Malin, MGC119262, MGC119264, NHL repeat containing 1, NHL repeat containing protein 1, NHL repeat-containing protein 1, NHLC1_HUMAN, NHLRC 1, Nhlrc1.

Background: 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.

ID gène: 378884