2q71

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Line 1: Line 1:
-
[[Image:2q71.jpg|left|200px]]
+
{{Seed}}
 +
[[Image:2q71.png|left|200px]]
<!--
<!--
Line 9: Line 10:
{{STRUCTURE_2q71| PDB=2q71 | SCENE= }}
{{STRUCTURE_2q71| PDB=2q71 | SCENE= }}
-
'''Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III'''
+
===Uroporphyrinogen Decarboxylase G168R single mutant enzyme in complex with coproporphyrinogen-III===
-
==Overview==
+
<!--
-
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.
 +
-->
 +
{{ABSTRACT_PUBMED_17240319}}
==Disease==
==Disease==
Line 33: Line 37:
[[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''

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

Page seeded by OCA on Sun Jul 27 13:29:58 2008

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2q71"
Personal tools