1k62

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[[Image:1k62.png|left|200px]]
 
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{{STRUCTURE_1k62| PDB=1k62 | SCENE= }}
{{STRUCTURE_1k62| PDB=1k62 | SCENE= }}
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===Crystal Structure of the Human Argininosuccinate Lyase Q286R Mutant===
===Crystal Structure of the Human Argininosuccinate Lyase Q286R Mutant===
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{{ABSTRACT_PUBMED_11747432}}
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{{ABSTRACT_PUBMED_11747432}}
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==Disease==
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[[http://www.uniprot.org/uniprot/ARLY_HUMAN ARLY_HUMAN]] Defects in ASL are the cause of arginosuccinic aciduria (ARGINSA) [MIM:[http://omim.org/entry/207900 207900]]. An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.<ref>PMID:1705937</ref><ref>PMID:2263616</ref><ref>PMID:12408190</ref><ref>PMID:17326097</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:011747432</ref><references group="xtra"/>
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<ref group="xtra">PMID:011747432</ref><references group="xtra"/><references/>
[[Category: Argininosuccinate lyase]]
[[Category: Argininosuccinate lyase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 01:25, 25 March 2013

Template:STRUCTURE 1k62

Contents

Crystal Structure of the Human Argininosuccinate Lyase Q286R Mutant

Template:ABSTRACT PUBMED 11747432

Disease

[ARLY_HUMAN] Defects in ASL are the cause of arginosuccinic aciduria (ARGINSA) [MIM:207900]. An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.[1][2][3][4]

About this Structure

1k62 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Sampaleanu LM, Vallee F, Thompson GD, Howell PL. Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. Biochemistry. 2001 Dec 25;40(51):15570-80. PMID:11747432
  1. ↑ Barbosa P, Cialkowski M, O'Brien WE. Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. J Biol Chem. 1991 Mar 15;266(8):5286-90. PMID:1705937
  2. ↑ Walker DC, McCloskey DA, Simard LR, McInnes RR. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. Proc Natl Acad Sci U S A. 1990 Dec;87(24):9625-9. PMID:2263616
  3. ↑ Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis. 2002 Sep;25(5):399-410. PMID:12408190
  4. ↑ Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007 Jul;28(7):694-702. PMID:17326097 doi:10.1002/humu.20498

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