PAH Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC, WB
Recommend Dilution	Western blot: 1/500 - 1/1000. Immunohistochemistry on paraffin sections: 1/50 - 1/200.
Reactivity	Human, Mouse, Rat
Host	Rabbit
Clonality	Polyclonal
Specificity	This antibody detects endogenous levels of PAH protein. (region surrounding Arg400)
Formulation	Phosphate buffered saline (PBS), pH 7.2. State: Aff - Purified State: Liquid purified Ig fraction Preservative: 0.05% sodium azide
Concentration	1.0 mg/ml
Purification	Affinity chromatography (> 95% (by SDS-PAGE)
Conjugation	Unconjugated
Storage Condition	Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer. Avoid repeated freezing and thawing.
Predicted Protein Size	~ 55 kDa
Gene Name	phenylalanine hydroxylase
Database Link	Entrez Gene 18478 MouseEntrez Gene 24616 RatEntrez Gene 5053 Human UniProt ID P00439
Background	The PAH gene encodes the enzyme phenylalanine hydroxylase (PAH), which converts phenylalanine to tyrosine and is the rate-limiting enzyme in phenylalanine catabolism. Mammalian PAH is a soluble, homotetrameric protein which is abundantly expressed in human liver. Deficiency of PAH activity results in the autosomal recessive disorder phenylketonuria (PKU), which is characterized by mental retardation unless a low phenylalanine diet is introduced early in life. The PAH gene, which maps to human chromosome 12q23.2, contains all the genetic information necessary to code for functional PAH, demonstrating that a single gene is involved in the classic disease phenotype. Numerous mutations can impair the PAH gene, which result in decreased enzyme activity and give rise to varying degrees of PKU. Multiple isozymes of PAH have been reported to exist, but these are most likely allelic variants of PAH that produce protein subunits with slightly different charge and electrophoretic migration.
Synonyms	Phenylalanine Hydroxylase, PH, PKU1, PKU
Reference Data
Protein Families	Druggable Genome
Protein Pathways	Metabolic pathways, Phenylalanine, tyrosine and tryptophan biosynthesis, Phenylalanine metabolism

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