| EPM2A — EPM2A Glial Protein | |
|---|---|
| Symbol | EPM2A |
| Full Name | EPM2A Glial Protein |
| Chromosome | 6q24 |
| NCBI Gene | 79583 |
| Ensembl | ENSG00000129680 |
| OMIM | 607051 |
| UniProt | Q9U6X3 |
| Diseases | Lafora Disease |
| Expression | Cerebral cortex, Hippocampus, Cerebellum, Brainstem |
| Key Mutations | |
| D146N G240S R241C P301A H321Y |
|
Epm2A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
EPM2A (EPM2A Glial Protein, also known as laforin) is a gene located on chromosome 6q24 that is critical for glycogen metabolism and is mutated in Lafora Disease. The gene is catalogued as NCBI Gene ID 79583 and OMIM 607051.
The protein encoded by EPM2A is EPM2A Protein (laforin).[1] See the protein page for detailed structural and functional information.
The EPM2A gene encodes the laforin protein, a dual-specificity phosphatase that plays a crucial role in glycogen metabolism and cellular stress responses. Laforin is unique among phosphatases as it contains a carbohydrate-binding domain (CBM) that allows it to interact with glycogen.
Expression data is available from the Allen Human Brain Atlas.
EPM2A mutations are linked to the following neurodegenerative condition:
Pathogenic variation in EPM2A contributes to disease through:
EPM2A has direct relevance for clinical genetics and translational research:
Experimental systems used to study EPM2A include transgenic mouse models, iPSC-derived neurons, and biochemical studies of glycogen metabolism.
Practical resources:
The study of Epm2A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Page auto-generated from NeuroWiki gene database. Last updated: 2026-03-05.