Target:PAH
Fields:Phenylalanine metabolism;Phenylalanine, tyrosine and tryptophan biosynthesis;Folate biosynthesis;Metabolic pathways;Biosynthesis of amino acids
Gene Name:PAH
Protein Name:Phenylalanine-4-hydroxylase
Human Gene Id:5053
Human Swiss Prot No:P00439
Mouse Gene Id:18478
Mouse Swiss Prot No:P16331
Rat Swiss Prot No:P04176
Immunogen:The antiserum was produced against synthesized peptide derived from human PAH. AA range:351-400
Specificity:PAH Polyclonal Antibody detects endogenous levels of PAH protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:PAH;Phenylalanine-4-hydroxylase;PAH;Phe-4-monooxygenase
Observed Band(KD):51kD
Background: 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. [provided by RefSeq, Jul 2008],
Function:catalytic activity:L-phenylalanine + tetrahydrobiopterin + O(2) = L-tyrosine + 4a-hydroxytetrahydrobiopterin.,cofactor:Fe(2+) ion.,disease:Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:261600]. HPA is the mildest form of phenylalanine hydroxylase deficiency.,disease:Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]. Non-PKU HPA is a mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one.,disease:Defects in PAH are the cause of phenylketonuria (PKU) [MIM:261600]. PKU is an autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylas
Subcellular Location:cytosol,extracellular exosome,
Expression: Liver,