NHLRC1 Rabbit anti-Human, Polyclonal, Bioss

Catalog No.	Quantity
50-198-8991	100 μL

Catalog No. 50-198-8991 Supplier Bioss Supplier No. BS9331R

Description

Rabbit Polyclonal Antibody

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
• Applications: Immunofluorescence, Immunohistochemistry (Paraffin), Western Blot
• Classification: Polyclonal
• Concentration: 1 μg/mL
• Conjugate: Unconjugated
• Formulation: PBS with 1% BSA, 50% glycerol and 0.09% sodium azide; pH
• 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: KLH conjugated synthetic peptide derived from human NHLRC1.
• Purification Method: Protein A
• Quantity: 100 μL
• Regulatory Status: RUO
• Primary or Secondary: Primary
• Gene ID (Entrez): 378884
• Target Species: Human
• Content And Storage: -20°C
• Product Type: Antibody
• Form: Liquid
• Isotype: IgG