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Phenylalanine Hydroxylase (PAH)

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PKU; PKU1; Phe-4-monooxygenase

Phenylalanine Hydroxylase (PAH)
CCC C750
HGNC 8582
MGI 97473
PubMed 17935162
RGD 3248
UniProt P00439
Wiki 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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  16. "PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus."Nucleic Acids Res. 24:127-131(1996) [PubMed] [Europe PMC] [Abstract]
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  22. "Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene."Am. J. Hum. Genet. 48:791-798(1991) [PubMed] [Europe PMC] [Abstract]
  23. "Phenylketonuria missense mutations in the Mediterranean."Genomics 9:96-103(1991) [PubMed] [Europe PMC] [Abstract]
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  25. "The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria."Hum. Genet. 87:389-393(1991) [PubMed] [Europe PMC] [Abstract]
  26. "A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria."J. Biol. Chem. 266:9351-9354(1991) [PubMed] [Europe PMC] [Abstract]
  27. "Molecular basis for nonphenylketonuria hyperphenylalaninemia."Genomics 14:1-5(1992) [PubMed] [Europe PMC] [Abstract]
  28. "Identification of a missense phenylketonuria mutation at codon 408 in Chinese."Hum. Genet. 89:593-596(1992) [PubMed] [Europe PMC] [Abstract]
  29. "A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria."Hum. Mol. Genet. 1:763-764(1992) [PubMed] [Europe PMC] [Abstract]
  30. "A new PKU mutation associated with haplotype 12."Hum. Mol. Genet. 1:765-766(1992) [PubMed] [Europe PMC] [Abstract]
  31. "Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis."Genomics 17:141-146(1993) [PubMed] [Europe PMC] [Abstract]
  32. "Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria."Hum. Mol. Genet. 2:31-34(1993) [PubMed] [Europe PMC] [Abstract]
  33. "Identification of a new missense mutation in Japanese phenylketonuric patients."J. Inherit. Metab. Dis. 16:950-956(1993) [PubMed] [Europe PMC] [Abstract]
  34. "Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients."Genomics 21:453-455(1994) [PubMed] [Europe PMC] [Abstract]
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  36. "PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems."Hum. Mutat. 8:236-246(1996) [PubMed] [Europe PMC] [Abstract]
  37. "Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations."Hum. Mutat. 8:276-279(1996) [PubMed] [Europe PMC] [Abstract]
  38. "Two novel PAH gene mutations detected in Italian phenylketonuric patients."Hum. Genet. 99:275-278(1997) [PubMed] [Europe PMC] [Abstract]
  39. "Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations."Hum. Mutat. 9:316-321(1997) [PubMed] [Europe PMC] [Abstract]
  40. "In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function."Hum. Mutat. 11:4-17(1998) [PubMed] [Europe PMC] [Abstract]
  41. "Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia."Hum. Mutat. 11:240-243(1998) [PubMed] [Europe PMC] [Abstract]
  42. "Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations."Hum. Mutat. 11:354-359(1998) [PubMed] [Europe PMC] [Abstract]
  43. "Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria."Hum. Mutat. 11:482-482(1998) [PubMed] [Europe PMC] [Abstract]
  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]
  46. "Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles."Hum. Mutat. 12:314-319(1998) [PubMed] [Europe PMC] [Abstract]
  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]
  48. "Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia."J. Hum. Genet. 43:231-236(1998) [PubMed] [Europe PMC] [Abstract]
  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]
  55. "Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene."Hum. Genet. 110:235-243(2002) [PubMed] [Europe PMC] [Abstract]
  56. "Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria."N. Engl. J. Med. 347:2122-2132(2002) [PubMed] [Europe PMC] [Abstract]
  57. "Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability."Am. J. Hum. Genet. 83:5-17(2008) [PubMed] [Europe PMC] [Abstract]
  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]