SAMD12 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SAMD12 wild-type allele is located within 8q24.11-q24.12 and is approximately 490 kb in length. This allele, which encodes sterile alpha motif domain-containing protein 12, may play a role in signal transduction in the brain. Mutations in the gene are associated with familial adult myoclonic epilepsy 1.

**Synonyms:** - BAFME - BAFME1 - Benign Adult Familial Myoclonic Epilepsy 1 Gene - FAME - FAME1 - FCMTE1 - Familial Adult Myoclonic Epilepsy 1 Gene - Familial Cortical Myoclonic Tremor with Epilepsy 1 Gene - MEBA - Myoclonic Epilepsy, Benign Adult Familial Gene - Sterile Alpha Motif Domain Containing 12 wt Allele