EPM2A wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - EPM2 - EPM2A Glucan Phosphatase, Laforin wt Allele - EPM2A, Laforin Glucan Phosphatase Gene - Epilepsy, Progressive Myoclonus Type 2, Lafora Disease (Laforin) Gene - LD - LDE - MELF - MELF2