Invitrogen™ NHLRC1 Polyclonal Antibody

Rabbit Polyclonal Antibody

Supplier:  Invitrogen™ PA576985

Catalog No. PIPA576985

Description

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

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.

Specifications

• Antigen: NHLRC1
• Classification: Polyclonal
• Conjugate: Unconjugated
• Gene: NHLRC1
• 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
• Host Species: Rabbit
• Purification Method: Antigen affinity chromatography
• Regulatory Status: RUO
• Gene ID (Entrez): 105193, 364682, 378884
• Content And Storage: Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
• Form: Liquid

• Applications: Immunohistochemistry (Paraffin), Western Blot, Immunocytochemistry
• Concentration: 1 mg/mL
• Formulation: PBS with 50% glycerol and 0.1% sodium azide; pH 7.2
• Gene Accession No.: Q6IMG5, Q6VVB1, Q8BR37
• Gene Symbols: NHLRC1
• Immunogen: Recombinant full length Human NHLRC1.
• Quantity: 100 μL
• Primary or Secondary: Primary
• Target Species: Human, Mouse, Rat
• Product Type: Antibody
• Isotype: IgG