| Protein Name | phenylalanine hydroxylase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5053 |
| Gene Symbol | PAH |
| UniProt | P00439 (PH4H_HUMAN), A0A024RBG4 (A0A024RBG4_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
991
Total Number of Articles : 1442 |
Description |
phenylalanine hydroxylase |
| Gene Summary |
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017] |
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| Properties | |