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Description for Protein EPM2A

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • DSPC: Dual specificity phosphatase, catalytic domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    3.1.3.16; 3.1.3.48
    KEGG - Orthology:
    K01090
    K01104
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    EC 3.1.3.16; EPM2; MELF; Lafora PTPase; Epilepsy progressive myoclonus type 2A Lafora disease; EC 3.1.3.48; LAFPTPase; Laforin isoform a; Laforin isoform b
    Approved Symbol:
    EPM2A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available


    Associated Genetic Diseases:

  • Epilepsy, progressive myoclonic 2A(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 06345 Entrez Gene ID: 7957 OMIM ID: 607566 Swissprot Accession: O95278Q6IS15