Aliases

• EC 3.1.3.16,EC 3.1.3.48
• EPM2
• EPM2A
• LAFPTPase
• LD
• LDE
• Lafora PTPase
• MELF
• epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
• epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
• lafora PTPase
• laforin

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]

Attributes

QA State

Under Review

Type

Gene

HGNC Name

EPM2A