NHLRC1 anticorps

N° du produit ABIN1387027

Cet anticorps Lapin Polyclonal détecte spécifiquement NHLRC1 dans WB, IF (p) et IHC (p). Il présente une réactivité envers Humain, Rat et Souris.

Aperçu rapide pour NHLRC1 anticorps (ABIN1387027)

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))

Détail du produit anti-NHLRC1 anticorps

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

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