Product Name: Malin
Product Number: AB-NN288-1
Size: 25 µg      Price:89.00
      $US
Target Full Name: E3 ubiquitin-protein ligase NHLRC1

Target Alias: NHLRC 1; NHL repeat containing 1; EPM2A; EPM2B; MGC119262; MGC119264; MGC119265; NHL repeat containing protein 1

Product Type Specific: E3 ubiquitin-protein ligase pan-specific antibody

Antibody Code: NN288-1

Antibody Target Type: Pan-specific

Protein UniProt: Q6VVB1

Protein SigNET: Q6VVB1

Antibody Type: Monoclonal

Antibody Host Species: Mouse

Antibody Ig Isotype Clone: IgG1

Antibody Immunogen Source: Fusion protein amino acids 2-125 (N-terminus encompassing RING domain) of human Malin. 86% identical to rat, and 77% identical to mouse.

Production Method: Protein G purified

Antibody Modification: Unconjugated. Contact KInexus if you are interest in having the antibody biotinylated or coupled with fluorescent dyes.

Antibody Concentration: 1 mg/ml

Storage Buffer: Phosphate buffered saline pH 7.4, 50% glycerol, 0.1% sodium azide

Storage Conditions: For long term storage, keep frozen at -40°C or lower. Stock solution can be kept at +4°C for more than 3 months. Avoid repeated freeze-thaw cycles.

Product Use: Western blotting | ICC/Immunofluorescence
Antibody Dilution Recommended: WB (1:1000); optimal dilutions for assays should be determined by the user.

Antibody Potency: In mouse brain lysates, this antibody detects a ~42 kDa protein by Western blotting.

Antibody Species Reactivity: Human

Antibody Positive Control: 1 µg/ml of SMC-444 was sufficient for detection of malin in 20 µg of transiently (malin) transfected COS cell lysate by colorimetric immunoblot analysis using Goat anti-mouse IgG:HRP as the secondary antibody.

Antibody Specificity: High

Antibody Cross Reactivity: Weak target protein and prominent ~65 kDa cross-reactive protein in mouse brain lysates.

Scientific 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.
References

[1] Chan E.M et al. (2003) Nat. Genet. 35:125-127.

[2] Worby C.A et al. (2008) J. Biol. Chem. 283:4069-4076.

[3] Gomez-Abad C et al. (2005) Neurology. 64:982-986.