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2q71

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[[Image:2q71.jpg|left|200px]]
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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'''
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===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.
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(as it appears on PubMed at http://www.pubmed.gov), where 17240319 is the PubMed ID number.
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{{ABSTRACT_PUBMED_17240319}}
==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]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun Jul 27 13:29:58 2008''

Revision as of 10:30, 27 July 2008

Image:2q71.png

Template:STRUCTURE 2q71

Contents

Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III

Template:ABSTRACT PUBMED 17240319

Disease

Known disease associated with this structure: Porphyria cutanea tarda OMIM:[176100], Porphyria, hepatoerythropoietic OMIM:[176100]

About this Structure

2Q71 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)., Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP, Transl Res. 2007 Feb;149(2):85-91. PMID:17240319

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