Phenylalanine Hydroxylase (PAH)

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PKU; PKU1; Phe-4-monooxygenase

Phenylalanine Hydroxylase (PAH)
Phenylalanine hydroxylase is the rate-limiting enzyme of the metabolic pathway which degrades excess phenylalanine. The other substrates in the reaction are molecular oxygen and tetrahydrobiopterin. Tetrahydrobiopterin is a member of the group of redox biochemicals known as pteridines.
PAH is the gene that encodes for phenylalanine hydroxylase. It was the research on phenylalanine hydroxylase by Seymour Kaufman that led to the discovery of tetrahydrobiopterin as a biological cofactor. Phenylalanine hydroxylase is a tetramer composed of four monomers, that is, composed of 4 identical subunits. Each subunit is in turn composed of three domains, a regulatory domain, a catalytic domain, and a tetramerization domain.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC750Hu01 Recombinant Phenylalanine Hydroxylase (PAH) Positive Control; Immunogen; SDS-PAGE; WB.
RPC750Hu02 Recombinant Phenylalanine Hydroxylase (PAH) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC750Hu01 Polyclonal Antibody to Phenylalanine Hydroxylase (PAH) WB
MAC750Hu22 Monoclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC; IP.
PAC750Hu02 Polyclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC; IP.
LAC750Hu71 Biotin-Linked Polyclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC.
MAC750Hu21 Monoclonal Antibody to Phenylalanine Hydroxylase (PAH) WB,IHC
MAC750Hu23 Monoclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC; IP.
MAC750Hu24 Monoclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC; IP.
MAC750Hu25 Monoclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC; IP.
Assay Kits SEC750Hu ELISA Kit for Phenylalanine Hydroxylase (PAH) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phenylalanine Hydroxylase (PAH) Recombinant Protein Customized Service Offer
Antibodies PAC750Mu01 Polyclonal Antibody to Phenylalanine Hydroxylase (PAH) WB; IHC; ICC; IP.
Assay Kits SEC750Mu ELISA Kit for Phenylalanine Hydroxylase (PAH) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phenylalanine Hydroxylase (PAH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phenylalanine Hydroxylase (PAH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phenylalanine Hydroxylase (PAH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phenylalanine Hydroxylase (PAH) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phenylalanine Hydroxylase (PAH) ELISA Kit Customized Service Offer
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  44. "Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X."Hum. Mutat. Suppl. 1:S121-S122(1998) [PubMed] [Europe PMC] [Abstract]
  45. "Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population."Hum. Mutat. Suppl. 1:S123-S124(1998) [PubMed] [Europe PMC] [Abstract]
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  47. "Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene."Hum. Mutat. 12:344-354(1998) [PubMed] [Europe PMC] [Abstract]
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  49. "Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)."Eur. J. Pediatr. 158:83-84(1999) [PubMed] [Europe PMC] [Abstract]
  50. "Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations."Hum. Mutat. 15:254-260(2000) [PubMed] [Europe PMC] [Abstract]
  51. "Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine."Am. J. Hum. Genet. 68:1353-1360(2001) [PubMed] [Europe PMC] [Abstract]
  52. "Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria."Hum. Mutat. 17:122-130(2001) [PubMed] [Europe PMC] [Abstract]
  53. "Molecular analysis of phenylketonuria (PKU) in newborns from Texas."Hum. Mutat. 17:523-523(2001) [PubMed] [Europe PMC] [Abstract]
  54. "A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics."Mol. Genet. Metab. 73:280-284(2001) [PubMed] [Europe PMC] [Abstract]
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  58. "Mutation analysis in Hyperphenylalaninemia patients from South Italy."Clin. Biochem. 46:1896-1898(2013) [PubMed] [Europe PMC] [Abstract]
  59. "Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients."J. Inherit. Metab. Dis. 36:7-13(2013) [PubMed] [Europe PMC] [Abstract]
  60. "Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene."Mol. Genet. Metab. 106:142-148(2012) [PubMed] [Europe PMC] [Abstract]