Nature Structural Biology
4, 995 - 1000 (1997)
doi:10.1038/nsb1297-995
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuriaHeidi Erlandsen1, Fabrizia Fusetti2, 4, Aurora Martinez3, Edward Hough1, Torgeir Flatmark3
& Raymond C. Stevens2, 5
1Protein Crystallography Group, Chemistry Department, Institute of Physical and Mathematical Sciences, University of Tromsø, N-9037 Tromsø, Norway
2Department of Chemistry, University of California, Berkeley, California 94720, USA and the Physical Biosciences Division at Lawrence Berkeley National Laboratory, California 94720, USA.
3Department of Biochemistry and Molecular Biology, University of Bergen, Årstadveien 19, N-5009 Bergen, Norway.
4Present address: Laboratory of Biophysical Chemistry, Chemistry Department, University of Groningen, Nijenborgh 4, 9747 AG Groningen, The Netherlands.
5stevens@adrenaline.berkeley.edu The 2.0 Å crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.
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