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Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.
A full-length human phenylalanine hydroxylase complementary DNA (cDNA) clone was isolated from a human liver cDNA library, and the nucleotide sequence encoding the entire enzyme was determined. The cDNA clone contains an inserted DNA fragment of 2448 base pairs, including 19 base pairs of poly(A) at the 3' end. The first methionine codon occurs at nucleotide position 223, followed by an open reading frame of 1353 base pairs, encoding 451 amino acids. Translation of the nucleotide sequence in the open reading frame predicts the amino acid sequence of human phenylalanine hydroxylase. The human protein shows a 96% amino acid sequence homology with the corresponding rat enzyme. The determination of the complete primary structure for phenylalanine hydroxylase represents the first among mixed-function oxidases.
PMID: 2986678 [PubMed - indexed for MEDLINE]
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Cited by 76 PubMed Central articles
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Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.
Kidd JR, Pakstis AJ, Zhao H, Lu RB, Okonofua FE, Odunsi A, Grigorenko E, Tamir BB, Friedlaender J, Schulz LO, et al.
Am J Hum Genet. 2000 Jun; 66(6):1882-99. Epub 2000 Apr 27.
[Am J Hum Genet. 2000]
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ReviewPhenylketonuria: old disease, new approach to treatment.
Levy HL.
Proc Natl Acad Sci U S A. 1999 Mar 2; 96(5):1811-3.
[Proc Natl Acad Sci U S A. 1999]
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Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner MC.
J Med Genet. 1998 Apr; 35(4):301-4.
[J Med Genet. 1998]
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