Phenylalanine Hydroxylase Antibody

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.

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.

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Publication using NBP1-52084	Applications	Species
Bonyadi M, Omrani O, Moghanjoghi SM, Shiva S. Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria. Genet Test Mol Biomarkers 2010-04-01 [PMID: 20187763]

Array NBP1-52084

• Phenylalanine Hydroxylase Antibodies
• Phenylalanine Hydroxylase ELISA Kit
• Phenylalanine Hydroxylase Proteins