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ITT3568

ITT3568
ITT3568
ITT3568
  • Gene/Protein: PAH
  • Product Description: Immunotag™ PAH Polyclonal Antibody
280.0000
Price in reward points: 294

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Immunotag™ PAH Polyclonal Antibody
Antibody Specification
Datasheet
Target Protein PAH
Clonality Polyclonal
Storage/Stability -20°C/1 year
Application WB,IHC-p,ELISA
Recommended Dilution Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. ELISA: 1/40000. Not yet tested in other applications.
Concentration 1 mg/ml
Reactive Species Human,Mouse,Rat
Host Species Rabbit
Immunogen Synthesized peptide derived from the C-terminal region of human PAH
Specificity PAH Polyclonal Antibody detects endogenous levels of PAH protein.
Purification The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen
Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Gene Name PAH
Accession No. P00439 P16331 P04176
Alternate Names PAH; Phenylalanine-4-hydroxylase; PAH; Phe-4-monooxygenase
Description phenylalanine hydroxylase(PAH) Homo sapiens 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],
Cell Pathway/ Category Phenylalanine metabolism,Phenylalanine, tyrosine and tryptophan biosynthesis,
Protein Expression Liver,
Subcellular Localization cytosol,extracellular exosome,
Protein 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 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.,enzyme regulation:N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to constitute an "inhibitory" domain that regulates the activity of a catalytic domain in the C-terminal portion of the molecule.,online information:Phenylalanine hydroxylase entry,online information:Phenylalanine hydroxylase locus knowledgebase,pathway:Amino-acid degradation; L-phenylalanine degradation; acetoacetic acid and fumarate from L-phenylalanine: step 1/6.,polymorphism:The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity of the variant protein is indistinguishable from that of the wild-type form.,similarity:Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.,similarity:Contains 1 ACT domain.,subunit:Homodimer.,
Usage For Research Use Only! Not for diagnostic or therapeutic procedures.
Material Safety Data Sheet
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