BD-PT3568

PAH Rabbit Polyclonal Antibody

PAH; Phenylalanine-4-hydroxylase; PAH; Phe-4-monooxygenase

常规抗体

PAH

Phenylalanine-4-hydroxylase

WB

Human,Mouse,Rat

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

5053

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=5053

P00439

http://www.uniprot.org/uniprotkb/P00439/entry

18478

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=18478

P16331

http://www.uniprot.org/uniprot/P16331

P04176

http://www.uniprot.org/uniprot/P04176

The antiserum was produced against synthesized peptide derived from human PAH. AA range:351-400

PAH Polyclonal Antibody detects endogenous levels of PAH protein.

WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200

51kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Liver,

cytosol,extracellular exosome,

Phenylalanine metabolism;Phenylalanine; tyrosine and tryptophan biosynthesis;

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.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.