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Invitrogen™ NHLRC1 Polyclonal Antibody
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Catalog No. PIPA5121441
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100 μL
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PIPA5121441 100 μL
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Catalog No. PIPA5121441 Supplier Invitrogen™ Supplier No. PA5121441
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Description

Rabbit Polyclonal Antibody

Antibody tested in Indirect ELISA.

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.
TRUSTED_SUSTAINABILITY

Specifications

Antigen NHLRC1
Applications ELISA, Immunohistochemistry (Paraffin)
Classification Polyclonal
Concentration 3.63 mg/mL
Conjugate Unconjugated
Formulation PBS with 50% glycerol and 0.03% ProClin 300; pH 7.4
Gene NHLRC1
Gene Accession No. Q6VVB1
Gene Alias AI505271; B230309E09Rik; bA204B7.2; E3 ubiquitin-protein ligase NHLRC1; EPM2A; EPM2B; Malin; NHL repeat containing 1; NHL repeat containing E3 ubiquitin protein ligase 1; NHL repeat-containing protein 1; NHLRC1; RING-type E3 ubiquitin transferase NHLRC1
Gene Symbols NHLRC1
Host Species Rabbit
Immunogen Recombinant Human E3 ubiquitin-protein ligase NHLRC1 protein (86-395aa).
Purification Method Protein G
Quantity 100 μL
Regulatory Status RUO
Primary or Secondary Primary
Gene ID (Entrez) 378884
Target Species Human
Content And Storage -20°C or -80°C if preferred
Product Type Antibody
Form Liquid
Isotype IgG
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