Epm2a - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
Alias:
TG-B
Tg(TcraK,TcrbK)TG-BFlv
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
Enables identical protein binding activity; phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen metabolic process. Acts upstream of or within several processes, including glycogen biosynthetic process; habituation; and regulation of cellular protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is expressed in several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). [provided by Alliance of Genome Resources, Apr 2022]