2pll

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[[Image:2pll.png|left|200px]]
 
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{{STRUCTURE_2pll| PDB=2pll | SCENE= }}
{{STRUCTURE_2pll| PDB=2pll | SCENE= }}
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===Crystal structure of perdeuterated human arginase I===
===Crystal structure of perdeuterated human arginase I===
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{{ABSTRACT_PUBMED_17562323}}
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{{ABSTRACT_PUBMED_17562323}}
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==Disease==
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[[http://www.uniprot.org/uniprot/ARGI1_HUMAN ARGI1_HUMAN]] Defects in ARG1 are the cause of argininemia (ARGIN) [MIM:[http://omim.org/entry/207800 207800]]; also known as hyperargininemia. Argininemia is a rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia, progressive spastic quadriplegia.<ref>PMID:1463019</ref><ref>PMID:7649538</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:017562323</ref><references group="xtra"/>
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<ref group="xtra">PMID:017562323</ref><references group="xtra"/><references/>
[[Category: Arginase]]
[[Category: Arginase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 20:33, 24 March 2013

Template:STRUCTURE 2pll

Contents

Crystal structure of perdeuterated human arginase I

Template:ABSTRACT PUBMED 17562323

Disease

[ARGI1_HUMAN] Defects in ARG1 are the cause of argininemia (ARGIN) [MIM:207800]; also known as hyperargininemia. Argininemia is a rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia, progressive spastic quadriplegia.[1][2]

About this Structure

2pll is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Di Costanzo L, Moulin M, Haertlein M, Meilleur F, Christianson DW. Expression, purification, assay, and crystal structure of perdeuterated human arginase I. Arch Biochem Biophys. 2007 Sep 1;465(1):82-9. Epub 2007 May 21. PMID:17562323 doi:10.1016/j.abb.2007.04.036
  1. ↑ Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I. Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. Am J Hum Genet. 1992 Dec;51(6):1406-12. PMID:1463019
  2. ↑ Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I. Molecular basis of phenotypic variation in patients with argininemia. Hum Genet. 1995 Sep;96(3):255-60. PMID:7649538

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