SETD1A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SETD1A wild-type allele is located in the vicinity of 16p11.2 and is approximately 27 kb in length. This allele, which encodes histone-lysine N-methyltransferase SETD1A protein, is involved in chromatin remodeling through methylation of histone H3. Mutation of the gene is associated with early onset epilepsy with or without developmental delay and neurodevelopmental disorder with speech impairment and dysmorphic facies.

**Synonyms:** - EPEDD - KIAA0339 - KMT2F - NEDSID - SET Domain Containing 1A Gene - SET Domain Containing 1A, Histone Lysine Methyltransferase wt Allele - SET1 - SET1A - Set1 - Set1A