QuickView for EPM2A (gene)

Gene Symbol:

EPM2A Homo sapiens

Full name:

EPM2A, laforin glucan phosphatase

Synonyms:

EPM2, MELF, laforin, LAFPTPase, epilepsy, progressive myoclonus type 2, Lafora disease (laforin), epilepsy, progressive myoclonus type 2A, Lafora disease (laforin), glucan phosphatase, glycogen phosphatase, lafora PTPase

Genomic Location:

Chr 6: 145988133-146098684

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

STAT4_01 ,  TTGCCAA_MIR182 ,  TTGTTT_FOXO4_01

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-182 ,  Predicted Gene Targets for miR-203

Cytogenetic Map:

6q24.3

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