NHLRC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NHLRC1 wild-type allele is located in the vicinity of 6p22.3 and is approximately 395 kb in length. This allele, which encodes E3 ubiquitin-protein ligase NHLRC1 protein, is involved in the regulation of misfolded protein and polyglucosan clearance. Mutations in the gene are associated with myoclonic epilepsy of Lafora 2.

**Synonyms:** - EPM2B - Epilepsy, Progressive Myoclonus Type 2B Gene - MALIN - MELF2 - NHL Repeat Containing 1 Gene - NHL Repeat Containing E3 Ubiquitin Protein Ligase 1 wt Allele - bA204B7.2