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Gene : EPM2A Homo sapiens

Name  ? EPM2A glucan phosphatase, laforin Cytological Location  6q24.3
Brief Description  EPM2A, laforin glucan phosphatase
description  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]
  • synonyms:
  • EPM2A, laforin glucan phosphatase,
  • uc003qkw.4,
  • NM_001018041,
  • LD,
  • epilepsy, progressive myoclonus type 2, Lafora disease (laforin),
  • MELF,
  • EPM2,
  • epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),
  • LDE,
  • HGNC:3413,
  • EPM2A,
  • AF284580,
  • OTTHUMG00000015747
  • identifiers:
  • 7957,
  • ENSG00000112425,
  • EPM2A

Genome feature

Region: gene ? Length: 353482  
Location: 6:145382540-145736021 reverse strand Cyto location: 6q24.3


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1 Diseases

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5 Cross References

17 Data Sets

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90 Rna Seq Results