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NHLRC1 Rabbit anti-Human, Polyclonal, Proteintech Non-distribution product as customer accommodation.

Rabbit Polyclonal Antibody

Manufacturer:  Proteintech Group IncSupplier Diversity Partner 213101AP

Catalog No. 50-173-3361


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Description

Description

This antibody is specific to NHLRC1.

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 ft.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.
Specifications

Specifications

NHLRC1
0.3 mg/mL
PBS with 50% glycerol and 0.02% sodium azide; pH 7.3
Q6VVB1
EPM2B, MALIN, NHL repeat containing 1, NHLRC1
Rabbit
IgG
150 μL
-20°C
Primary
378884
Immunohistochemistry (Paraffin), Western Blot
Unconjugated
NHLRC1
Liquid
NHLRC1
NHLRC1 Fusion Protein Ag15940
Antigen Affinity Chromatography
RUO
Antibody
Polyclonal
Human
Documents
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