EPM2A
Gene Information
- Official Symbol: EPM2A
- Official Name: EPM2A glucan phosphatase, laforin
- Aliases and Previous Symbols: N/A
- Entrez ID: 7957
- UniProt: O95278"|"B3EWF7|O95278"
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: N/A
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 8542
- Expression level (log2 read counts): 4.05
EPM2A Expression in NALM6 Cells: 4.05
