This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| EPM2A-20-RE | 20 (40 μL) | 200 μL |  |
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| EPM2A-20-OR | 20 (40 μL) | 200 μL |  |
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| EPM2A-20-GO | 20 (40 μL) | 200 μL |  |
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| EPM2A-20-GR | 20 (40 μL) | 200 μL |  |
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| EPM2A-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
Gene Symbol : EPM2A
Gene Name : EPM2A, laforin glucan phosphatase
Chromosome : CHR 6: 145,736,017-145,500,743
Locus : 6q24.3
Alt. Genes : SGK2
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