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==Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation==
==Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation==
<StructureSection load='4flc' size='340' side='right' caption='[[4flc]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
<StructureSection load='4flc' size='340' side='right'caption='[[4flc]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[4flc]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4FLC OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4FLC FirstGlance]. <br>
<table><tr><td colspan='2'>[[4flc]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4FLC OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4FLC FirstGlance]. <br>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2vd6|2vd6]], [[2j91|2j91]]</td></tr>
</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4flc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4flc OCA], [https://pdbe.org/4flc PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4flc RCSB], [https://www.ebi.ac.uk/pdbsum/4flc PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4flc ProSAT]</span></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ADSL, AMPS ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Adenylosuccinate_lyase Adenylosuccinate lyase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.3.2.2 4.3.2.2] </span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4flc FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4flc OCA], [http://pdbe.org/4flc PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4flc RCSB], [http://www.ebi.ac.uk/pdbsum/4flc PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4flc ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/PUR8_HUMAN PUR8_HUMAN]] Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) [MIM:[http://omim.org/entry/103050 103050]]. ADSL deficiency is an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.  
[https://www.uniprot.org/uniprot/PUR8_HUMAN PUR8_HUMAN] Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) [MIM:[https://omim.org/entry/103050 103050]. ADSL deficiency is an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.
== Function ==
[https://www.uniprot.org/uniprot/PUR8_HUMAN PUR8_HUMAN]
<div style="background-color:#fffaf0;">
<div style="background-color:#fffaf0;">
== Publication Abstract from PubMed ==
== Publication Abstract from PubMed ==
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</div>
</div>
<div class="pdbe-citations 4flc" style="background-color:#fffaf0;"></div>
<div class="pdbe-citations 4flc" style="background-color:#fffaf0;"></div>
==See Also==
*[[Adenylosuccinate lyase 3D structures|Adenylosuccinate lyase 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Adenylosuccinate lyase]]
[[Category: Homo sapiens]]
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Calkins, L A.F]]
[[Category: Calkins LAF]]
[[Category: Capodagli, G C]]
[[Category: Capodagli GC]]
[[Category: Deaton, M K]]
[[Category: Deaton MK]]
[[Category: Ghosh, K]]
[[Category: Ghosh K]]
[[Category: Patterson, D]]
[[Category: Patterson D]]
[[Category: Pegan, S D]]
[[Category: Pegan SD]]
[[Category: Ray, S P]]
[[Category: Ray SP]]
[[Category: Sawle, L]]
[[Category: Sawle L]]
[[Category: Disease mutation]]
[[Category: Lyase]]
[[Category: Purine biosynthesis]]
[[Category: Purine metabolism]]
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