The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme helps process phenylalanine, which is a building block of proteins (amino acid). Phenylalanine is obtained through the diet; it is found in certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners.
Phenylalanine hydroxylase is responsible for the conversion of phenylalanine to another amino acid, tyrosine. The enzyme works with a molecule called tetrahydrobiopterin (BH4) to carry out this chemical reaction. Tyrosine is used to make several types of hormones and a pigment called melanin, which gives hair and skin their color. It is also used to make neurotransmitters, which are chemicals that transmit signals in the brain. Tyrosine can also be broken down into smaller molecules that are used to produce energy.
Other Names
L-Phenylalanine,tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating); PH4H_HUMAN; Phenylalaninase; Phenylalanine 4-Hydroxylase; Phenylalanine 4-Monooxygenase; PKU1
Related Genetics Topics
Identifiers
- NCBI Gene: 5053
- OMIM: 612349
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
