Thermo Fisher Scientific NHLRC1 Polyclonal Antibody

Applications

Tested Dilution

Publications

Western Blot (WB)

1:500-1:2,000

-

Immunohistochemistry (Paraffin) (IHC (P))

1:50-1:200

-

Immunocytochemistry (ICC/IF)

1:50-1:200

-

Product Specifications

Species Reactivity

Human, Mouse, Rat

Host/Isotype

Rabbit / IgG

Class

Polyclonal

Type

Antibody

Immunogen

Recombinant full length Human NHLRC1. if (typeof window.$mangular === undefined || !window.$mangular) { window.$mangular = {}; } $mangular.antigenJson = \[{targetFamily:NHLRC1,uniProtId:Q6VVB1-1,ncbiNodeId:9606,antigenRange:1-395,antigenLength:395,antigenImageFileName:PA5-76985_NHLRC1_Q6VVB1-1_Rabbit.svg,antigenImageFileNamePDP:PA5-76985_NHLRC1_Q6VVB1-1_Rabbit_PDP.jpeg,sortOrder:1}\]; $mangular.isB2BCMGT = false; $mangular.isEpitopesModalImageMultiSizeEnabled = true;

View immunogen .st0{fill:#FFFFFF;} .st1{fill:#1E8AE7;}

Conjugate

Unconjugated Unconjugated Unconjugated

Form

Liquid

Concentration

1 mg/mL

Purification

Antigen affinity chromatography

Storage buffer

PBS, pH 7.2, with 50% glycerol

Contains

0.1% sodium azide

Storage conditions

Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.

Shipping conditions

Wet ice

RRID

AB_2720712

Product Specific Information

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

Target Information

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.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.