EFHC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EFHC1 wild-type allele is located in the vicinity of 6p12.2 and is approximately 168 kb in length. This allele, which encodes EF-hand domain-containing protein 1, plays a role in cell division and neuronal migration. Mutation of the gene is associated with increased susceptibility to both juvenile myoclonic epilepsy 1 and juvenile absence epilepsy 1.

**Synonyms:** - EF-Hand Domain (C-Terminal) Containing 1 Gene - EF-Hand Domain Containing 1 wt Allele - EJM - EJM1 - Epilepsy, Juvenile Myoclonic 1 Gene - POC9 - RIB72 - dJ304B14.2