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Sequence of this protein is as follows: MRFRFGVVVP PAVAGARPEL LVVGSRPELG RWEPRGAVRL RPAGTAAGDG ALALQEPGLW LGEVELAAEE AAQDGAEPGR VDTFWYKFLK REPGGELSWE GNGPHHDRCC TYNENNLVDG VYCLPIGHWI EATGHTNEMK HTTDFYFNIA GHQAMHYSRI LPNIWLGSCP RQVEHVTIKL KHELGITAVM NFKTEWDIVQ NSSGCNRYPE PMTPDTMIKL YREEGLAYIW MPTPDMSTEG RVQMLPQAVC LLHALLEKGH IVYVHCNAGV GRSTAAVCGW LQYVMGWNLR KVQYFLMAKR PAVYIDEEAL ARAQEDFFQK FGKVRSSVCS L
The Epilepsy, progressive myoclonus type 2A protein (EPM2A) is a dual-specificity phosphatase that associates with polyribosomes. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. EPM2A interacts with a number of proteins known to be involved in glycogen metabolism and has been shown to have robust phosphatase activity against a phosphorylated complex carbohydrate, suggesting that EPM2A may be involved in the regulation of glycogen metabolism.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: epilepsy, progressive myoclonus type 2, Lafora disease (laforin); EPM2A; Glucan phosphatase; Glycogen phosphatase; Lafora PTPase; Laforin; LAFPTPase; RP1-28C20.2
基因别名: EPM2; EPM2A; MELF
UniProt ID: (Human) O95278
Entrez Gene ID: (Human) 7957