Preferred Label : EPM2A wt Allele;
NCIt synonyms : LDE; EPM2; MELF; Epilepsy, Progressive Myoclonus Type 2, Lafora Disease (Laforin) Gene; LD; EPM2A, Laforin Glucan Phosphatase Gene; MELF2; EPM2A Glucan Phosphatase, Laforin wt Allele;
NCIt definition : Human EPM2A wild-type allele is located in the vicinity of 6q24.3 and is approximately
353 kb in length. This allele, which encodes laforin, plays a role in protein phosphatase
activity and glycogen metabolism. Loss of function mutations in the gene are associated
with myoclonic epilepsy of Lafora 1.;
GenBank Accession Number : AF284580;
Origin ID : C216116;
OMIM relation
- gene_found_in_organism
- gene_plays_role_in_process
