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PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: PAH; Phe-4-monooxygenase; phenylalanine 4-monooxygenase; Phenylalanine-4-hydroxylase
基因别名: AW106920; PAH; PH; PKU; PKU1
UniProt ID: (Human) Q16717, (Mouse) P16331
Entrez Gene ID: (Human) 5053, (Mouse) 18478, (Rat) 24616