Molecular basis of acute intermittent porphyria.
Acute intermittent porphyria is an inherited disease of haem biosynthesis that results from mutation of the gene for the enzyme porphobilinogen deaminase. Many different mutations have been located throughout the gene. The three-dimensional structure of the enzyme helps in understanding how these mutations lead to inactivation even when, in some cases, the mutated product is abundant and folded correctly.
Wood
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S
Laboratory of Molecular Biology, Department of Crystallography, Birkbeck College, University of London, UK. s.wood@uk.ac.bbk.cryst
Lambert
R
R
Jordan
P M
PM
D000595:Amino Acid Sequence; D006418:Heme / Q000096:biosynthesis* / Q000737:chemistry; D011163:Hydroxymethylbilane Synthase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008958:Models, Molecular; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D017118:Porphyria, Acute Intermittent / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D011487:Protein Conformation; D017386:Sequence Homology, Amino Acid
D006418:Heme; D011163:Hydroxymethylbilane Synthase