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NHLRC1 Polyclonal Antibody

CAT: 0498-bs-9331RSize: 100 µLDry Ice: NoHazardous: No
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CAT#:0498-bs-9331RSize:100 µL
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24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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Background
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.
Synonyms
E3 ubiquitin-protein ligase NHLRC1; EPM2A; EPM2B; Malin; MGC119262; MGC119264; NHL repeat containing 1; NHL repeat containing protein 1; NHL repeat-containing protein 1; NHLC1_HUMAN; NHLRC 1; Nhlrc1.
Gene ID
378884
Host
Rabbit
Cross Reactivity
Rat
Immunogen
221-320/395
Target
NHLRC1
Clonality
Polyclonal
Isotype
IgG
Conjugation
Unconjugated
Source
KLH conjugated synthetic peptide derived from human NHLRC1
Applications
WB, IHC-P, IF (IHC-P)
Purification
Purified by Protein A.
Concentration
1µg/µl
Dilution
WB (1:300-5000), IHC-P (1:200-400), IF (IHC-P) (1:50-200)
Buffer
0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Modification
Unmodified
Storage Conditions
Shipped at 4C. Store at -20C for one year. Avoid repeated freeze/thaw cycles.
Gene ID URL
378884
Predicted Cross Reactivity
Human, Mouse, Rabbit

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