The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/300. ab172730-Rabbit monoclonal IgG, is suitable for use as an isotype control with this antibody.
1/1000 - 1/10000. Detects a band of approximately 52 kDa (predicted molecular weight: 52 kDa).
1/400 - 1/800. Perform heat mediated antigen retrieval with Tris/EDTA buffer pH 9.0 before commencing with IHC staining protocol.
Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 1/6.
Involvement in 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 hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. 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. Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:261600]. HPA is the mildest form of phenylalanine hydroxylase deficiency.
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Contains 1 ACT domain.
Flow cytometric analysis of U87-MG cells (paraformaldehyde-fixed, 2%) labeling PAH with ab191415 at 1/300 dilution (red), or a rabbit IgG (negative) (green), followed by Goat anti rabbit IgG (FITC) secondary at 1/150 dilution.
Immunohistochemical analysis of paraffin-embedded Mouse kidney tissue labeling PAH with ab191415 at 1/800 dilution (1.9 μg/ml) followed by pre-diluted HRP Polymer for Rabbit IgG secondary antibody and counter-stained with Hematoxylin. Inset: Negative control: using PBS instead of primary antibody.
Western blot - Anti-PAH [EPR12381] antibody - C-terminal (ab191415)
All lanes : Anti-PAH [EPR12381] antibody - C-terminal (ab191415) at 1/10000 dilution
Lane 1 : Human fetal liver lysate Lane 2 : HepG2 cell lysate Lane 3 : U87-MG cell lysate Lane 4 : 293 cell lysate
Lysates/proteins at 20 µg per lane.
Secondary Goat Anti-Rabbit IgG, (H+L),Peroxidase conjugated at 1/1000 dilution
Immunohistochemical analysis of paraffin-embedded Human liver tissue labeling PAH with ab191415 at 1/800 dilution (1.9 μg/ml) followed by pre-diluted HRP Polymer for Rabbit IgG secondary antibody and counter-stained with Hematoxylin. Inset: Negative control: using PBS instead of primary antibody.