基因名：
PAH
产品别名：
PH； PKU； PKU1； PAH； phenylalanine hydroxylase； phenylalanine hydroxylase； phenylalanine-4-hydroxylase； phe-4-monooxygenase； phenylalanine 4-monooxygenase； 苯丙氨酸羟化酶(PAH)； 苯丙氨酸羟化酶4；
背景信息：
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]
