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| [[Image:2q71.jpg|left|200px]] | | {{Seed}} |
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| {{STRUCTURE_2q71| PDB=2q71 | SCENE= }} | | {{STRUCTURE_2q71| PDB=2q71 | SCENE= }} |
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| '''Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III'''
| | ===Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III=== |
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| ==Overview==
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| Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria in humans. The disorder is caused by homozygosity or compound heterozygosity for mutations of the uroporphyrinogen decarboxylase (URO-D) gene. Subnormal URO-D activity results in accumulation of uroporphyrin in the liver, which ultimately mediates the photosensitivity that clinically characterizes HEP. Two previously undescribed URO-D mutations found in a 2-year-old Caucasian boy with HEP, a maternal nonsense mutation (Gln71Stop), and a paternal missense mutation (Gly168Arg) are reported here. Recombinant Gly168Arg URO-D retained 65% of wild-type URO-D activity and studies in Epstein-Barr Virus (EBV)-transformed lymphoblasts indicated that protein levels are reduced, suggesting that the mutant protein might be subjected to accelerated turnover. The crystal structure of Gly168Arg was determined both as the apo-enzyme and with the reaction product bound. These studies revealed little distortion of the active site, but a loop containing residues 167-172 was displaced, possibly indicating small changes in the catalytic geometry or in substrate binding or increased accessibility to a cellular proteolytic pathway. A second pregnancy occurred in this family, and in utero genotyping revealed a fetus heterozygous for the maternal nonsense mutation (URO-D genotype WT/Gln71Stop). A healthy infant was born with no clinical evidence of porphyria.
| | The line below this paragraph, {{ABSTRACT_PUBMED_17240319}}, adds the Publication Abstract to the page |
| | (as it appears on PubMed at http://www.pubmed.gov), where 17240319 is the PubMed ID number. |
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| | {{ABSTRACT_PUBMED_17240319}} |
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| ==Disease== | | ==Disease== |
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| [[Category: Whitby, F G.]] | | [[Category: Whitby, F G.]] |
| [[Category: Uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex]] | | [[Category: Uroporphyrinogen decarboxylase enzyme urod g168r coproporphyrinogen-iii product complex]] |
| ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun May 4 14:27:38 2008'' | | |
| | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Jul 27 13:29:58 2008'' |