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==Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation== | |||
<StructureSection load='4ffx' size='340' side='right'caption='[[4ffx]], [[Resolution|resolution]] 2.70Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[4ffx]] 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=4FFX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4FFX FirstGlance]. <br> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.7Å</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=4ffx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4ffx OCA], [https://pdbe.org/4ffx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4ffx RCSB], [https://www.ebi.ac.uk/pdbsum/4ffx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4ffx ProSAT]</span></td></tr> | |||
</table> | |||
== Disease == | |||
[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] | |||
==See Also== | |||
*[[Adenylosuccinate lyase 3D structures|Adenylosuccinate lyase 3D structures]] | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Calkins LAF]] | |||
[[Category: Capodagli GC]] | |||
[[Category: Deaton MK]] | |||
[[Category: Ghosh K]] | |||
[[Category: Patterson D]] | |||
[[Category: Pegan SD]] | |||
[[Category: Ray SP]] | |||
[[Category: Sawle L]] | |||
Latest revision as of 18:23, 14 March 2024
Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated MutationStructural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation
Structural highlights
DiseasePUR8_HUMAN Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) [MIM: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. FunctionSee Also |
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