Gene Symbol | PAH |
Entrez Gene ID | 5053 |
Full Name | phenylalanine hydroxylase |
Synonyms | PH,PKU,PKU1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild], 261600 (3) |