NHLRC1 antibody

Catalog No. ABIN1387027

This Rabbit Polyclonal antibody specifically detects NHLRC1 in WB, IF (p) and IHC (p). It exhibits reactivity toward Human, Rat and Mouse.

Quick Overview for NHLRC1 antibody (ABIN1387027)

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

Reactivity: Human, Rat, Mouse

Host: Rabbit

Clonality: Polyclonal

Conjugate: This NHLRC1 antibody is un-conjugated

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

Product Details anti-NHLRC1 Antibody

Cross-Reactivity: Human, Mouse, Rat

Purification: Purified by Protein A.

Immunogen: KLH conjugated synthetic peptide derived from human NHLRC1

Isotype: IgG

Application Details

Application Notes: WB 1:300-5000
IHC-P 1:200-400
IF(IHC-P) 1:50-200

Restrictions: For Research Use only

Handling

Format: Liquid

Concentration: 1 μg/μL

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

Preservative: ProClin

Precaution of Use: This product contains ProClin: a POISONOUS AND HAZARDOUS SUBSTANCE, which should be handled by trained staff only.

Storage: 4 °C,-20 °C

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

Expiry Date: 12 months

Target Details for NHLRC1

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

Alternative Name: NHLRC1

Background:

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.

Gene ID: 378884