Details for: Epm2a
Associated with
Other Information
Genular Protein ID: 3438051795
Symbol: EPM2A_MOUSE
Name: Glucan phosphatase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10092504
Title: Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A.
PubMed ID: 10092504
PubMed ID: 19468303
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
PubMed ID: 19468303
PubMed ID: 16141072
Title: The transcriptional landscape of the mammalian genome.
PubMed ID: 16141072
PubMed ID: 11355878
Title: Regional and developmental expression of Epm2a gene and its evolutionary conservation.
PubMed ID: 11355878
PubMed ID: 12019206
Title: Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
PubMed ID: 12019206
PubMed ID: 16971387
Title: Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling.
PubMed ID: 16971387
PubMed ID: 18040046
Title: Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
PubMed ID: 18040046
PubMed ID: 18852261
Title: Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.
PubMed ID: 18852261
PubMed ID: 19036738
Title: The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.
PubMed ID: 19036738
DOI: 10.1093/hmg/ddn398
PubMed ID: 19542233
Title: Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.
PubMed ID: 19542233
PubMed ID: 20453062
Title: Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
PubMed ID: 20453062
DOI: 10.1093/hmg/ddq190
PubMed ID: 22669944
Title: Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
PubMed ID: 22669944
PubMed ID: 23663739
Title: Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease.
PubMed ID: 23663739
PubMed ID: 23624058
Title: Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex.
PubMed ID: 23624058
PubMed ID: 24430976
Title: The phosphatase activity of laforin is dispensable to rescue Epm2a-/-mice from Lafora disease.
PubMed ID: 24430976
DOI: 10.1093/brain/awt353
PubMed ID: 24068615
Title: Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
PubMed ID: 24068615
Sequence Information:
- Length: 330
- Mass: 36958
- Checksum: 89B18C64BBBAB02A
- Sequence:
MLFRFGVVVP PAVAGARQEL LLAGSRPELG RWEPHGAVRL RPAGTAAGAA ALALQEPGLW LAEVELEAYE EAGGAEPGRV DTFWYKFLQR EPGGELHWEG NGPHHDRCCT YNEDNLVDGV YCLPVGHWIE ATGHTNEMKH TTDFYFNIAG HQAMHYSRIL PNIWLGSCPR QLEHVTIKLK HELGVTAVMN FQTEWDIIQN SSGCNRYPEP MTPDTMMKLY KEEGLSYIWM PTPDMSTEGR VQMLPQAVCL LHALLENGHT VYVHCNAGVG RSTAAVCGWL HYVIGWNLRK VQYFIMAKRP AVYIDEDALA QAQQDFSQKF GKVHSSICAL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.