Promoter Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence for the regulatory region of a gene that is the binding site for proteins that initiate gene transcription, such as transcription factors and RNA polymerase.

**Synonyms:** - Promoter Region Mutation - Promoter Region Variant - Promoter Sequence Mutation - Promoter Sequence Variant - Promoter Variant