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Product Details
PA5-76985
Applications
Tested Dilution
Publications
Product Specifications
Species Reactivity
Human,
Mouse,
Rat
Host/Isotype
Rabbit
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
Recombinant full length Human NHLRC1.
Conjugate
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.
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Bioinformatics
Protein Aliases: E3 ubiquitin-protein ligase NHLRC1; Malin; NHL repeat containing 1; NHL repeat-containing protein 1; RING-type E3 ubiquitin transferase NHLRC1
Gene Aliases: AI505271; B230309E09Rik; bA204B7.2; EPM2A; EPM2B; MALIN; NHLRC1
UniProt ID: (Human) Q6VVB1, (Mouse) Q8BR37, (Rat) Q6IMG5
Entrez Gene ID: (Human) 378884, (Mouse) 105193, (Rat) 364682
ubiquitin-protein transferase activity
protein binding
zinc ion binding
ligase activity
ubiquitin protein ligase activity
UDP-N-acetylmuramoylalanyl-D-glutamyl-2,6-diaminopimelate-D-alanyl-D-alanine ligase activity
ribosomal S6-glutamic acid ligase activity
coenzyme F420-0 gamma-glutamyl ligase activity
coenzyme F420-2 alpha-glutamyl ligase activity
metal ion binding
protein-glycine ligase activity
protein-glycine ligase activity, initiating
protein-glycine ligase activity, elongating
tubulin-glycine ligase activity
protein-glutamic acid ligase activity
tubulin-glutamic acid ligase activity
ubiquitin-protein ligase
Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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