NHLRC1 polyclonal Antibody | BS8340

NHLRC1 polyclonal Antibody | BS8340 | Gentaur UK, US & Europe Distribution

Host: Rabbit

Reactivity: Human,Mouse,Rat

Application: WB IHC IF

Application Range: WB: 1:500~1:2000 IHC/IF: 1:50~1:200

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.

Storage & Stability: Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.

Specificity: NHLRC1 polyclonal Antibody detects endogenous levels of NHLRC1 protein.

Molecular Weight: ~ 42 kDa

Note: For research use only, not for use in diagnostic procedure.

Alternative Names: E3 ubiquitin-protein ligase NHLRC1; Malin; NHL repeat-containing protein 1; NHLRC1; EPM2B

Immunogen: Recombinant full length Human NHLRC1.

Conjugate: N/A

Modification: N/A

Purification & Purity: The Antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE) .

Pathway: N/A