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.

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.

Rat,Human,Mouse,Rabbit

WB

WB 1:500-2000

42kD

378884

Q3SYB1

https://www.uniprot.org/uniprotkb/Q3SYB1

Endoplasmic reticulum. Nucleus. Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus.

Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.

KLH conjugated synthetic peptide derived from human NHLRC1

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.