GTX88479
Laforin antibody, Internal
Eine Lieferung in diese Region ist nicht möglich.
- SKU:
- GTX88479
- Zusätzliche Namen:
- EPM2A glucan phosphatase, laforin , EPM2 , MELF
- Anwendung:
- WB, IHC-P
- Konzentration:
- 0.50 mg/ml
- Physischer Zustand:
- Liquid
- Spezies-Reaktivität:
- Human
- Aufreinigung:
- Ammonium Sulfate Precipitated; Affinity Purified
- Lagerbedingungen:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Hersteller:
- Genetex
- Host:
- Goat
- Reaktivitäten:
- Human
- Buffer:
- TBS, 0.5% BSA, 0.02% Sodium azide.
- Immunogen:
- Peptide with sequence C-EATGHTNEMKHTTD, from the internal region of the protein sequence according to NP_005661.1.
- Uniprot:
- O95278
- Synonyme:
- epilepsy, progressive myoclonus type 2, Lafora disease (laforin);epilepsy, progressive myoclonus type 2A, Lafora disease (laforin);EPM2;EPM2A, laforin glucan phosphatase;glucan phosphatase;glycogen phosphatase;lafora PTPase;laforin;LAFPTPase;MELF
- Weitere Details:
- 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]
- Versandbedingungen:
- Blue Ice