EPM2A

Aliases:
This biomarker is also known as:
  • LAFPTPase
  • epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
  • LDE
  • lafora PTPase
  • LD
  • MELF
  • epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
  • Lafora PTPase
  • EPM2A
  • laforin
  • EC 3.1.3.16,EC 3.1.3.48
  • EPM2

Description…

From NCBI Gene: 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]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: EPM2A

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Version 5.1.0