EPM2A glucan phosphatase, laforin
| UniProt | Protein Name |
|---|---|
| O95278 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| autophagosome assembly | ||
| regulation of cell growth | ||
| glycogen metabolic process | ||
| glycogen metabolic process | ||
| glycogen biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycogen (starch) synthase activity | ||
| protein serine/threonine phosphatase activity | ||
| protein tyrosine phosphatase activity | ||
| protein tyrosine phosphatase activity | ||
| non-membrane spanning protein tyrosine phosphatase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:891 | progressive myoclonus epilepsy |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000572 | Visual loss |
| HP:0000709 | Psychosis |
| HP:0000712 | Emotional lability |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| Disease ID | Disease Name |
|---|---|
| ORPHA:501 |
|
| OMIM:254780 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025