PAH wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PAH wild-type allele is located in the vicinity of 12q23.2 and is approximately 122 kb in length. This allele, which encodes phenylalanine-4-hydroxylase protein, plays a role in the catabolism of phenylalanine. Loss of function mutations in the gene are associated with both hyperphenylalaninemia and phenylketonuria.

**Synonyms:** - PH - PKU - PKU1 - Phenylalanine Hydroxylase wt Allele