Laforin/EPM2A Products

Description

EPM2A 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]

Bioinformatics

Entrez	7957 Human 13853 Mouse 680683 Rat
Uniprot	NP_001018051 Human AAH70047.1 Human NP_005661 Human NP_005661.1 Human
Product By Gene ID	7957
Alternate Names	EC 3.1.3.48 MELF EC 3.1.3.16 EPM2 laforin LAFPTPase Lafora PTPase LDE epilepsy, progressive myoclonus type 2, Lafora disease (laforin) LD epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

Diseases related to Laforin/EPM2A

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Lafora Disease
Epilepsy
Epilepsies, Myoclonic
Myoclonus
Myoclonic Epilepsies, Progressive
Neurodegenerative Disorders
Nerve Degeneration
Dementia
Ataxia
Tonic-clonic Epilepsy
Impaired Cognition
Hallucinations
Visual Hallucinations
Febrile Convulsions
Unverricht-lundborg Syndrome
Visual Seizure
Neoplasms
Atrophy
Cognition Disorders

Pathways for Laforin/EPM2A

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Pathogenesis
Cell Death
Autophagy
Localization
Protein Targeting
Hyperphosphorylation
Transport
Programmed Cell Death
Cellular Process
Response To Endoplasmic Reticulum Stress
Glucose Homeostasis
Cell Division
Macroautophagy
Translation
Cell Cycle
Necrotic Cell Death
Cell Growth
Cognition

Research Areas for Laforin/EPM2A

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Protein Phosphatase

PTMs for Laforin/EPM2A

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Phosphorylation
Dephosphorylation
Ubiquitination
Cleavage

Bioinformatics Tool for Laforin/EPM2A

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