NHLRC1 Rabbit anti-Human, Polyclonal, Proteintech

Rabbit Polyclonal Antibody

Catalog Number	Mfr. No.	Quantity
50-173-3361	Proteintech Group Inc 213101AP150UL	150 μL

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′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: Immunohistochemistry (Paraffin), Western Blot
• Conjugate: Unconjugated
• Host Species: Rabbit
• Target Species: Human
• Gene Accession No.: Q6VVB1
• Gene ID (Entrez): 378884
• Immunogen: NHLRC1 Fusion Protein Ag15940
• Primary or Secondary: Primary
• Content And Storage: -20°C
• Gene: NHLRC1

• Concentration: 0.3 mg/mL
• Classification: Polyclonal
• Form: Liquid
• Regulatory Status: RUO
• Formulation: PBS with 50% glycerol and 0.02% sodium azide; pH 7.3
• Gene Alias: EPM2B, MALIN, NHL repeat containing 1, NHLRC1
• Gene Symbols: NHLRC1
• Isotype: IgG
• Purification Method: Antigen Affinity Chromatography
• Product Type: Antibody