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4ffx
From Proteopedia
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| - | [[Image:4ffx.png|left|200px]] | ||
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{{STRUCTURE_4ffx| PDB=4ffx | SCENE= }} | {{STRUCTURE_4ffx| PDB=4ffx | SCENE= }} | ||
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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=== | ||
| + | {{ABSTRACT_PUBMED_22812634}} | ||
| - | + | ==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. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:022812634</ref><references group="xtra"/> | + | <ref group="xtra">PMID:022812634</ref><references group="xtra"/><references/> |
[[Category: Adenylosuccinate lyase]] | [[Category: Adenylosuccinate lyase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 03:25, 25 March 2013
Contents |
Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation
Template:ABSTRACT PUBMED 22812634
Disease
[PUR8_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.
About this Structure
4ffx is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Ray SP, Deaton MK, Capodagli GC, Calkins LA, Sawle L, Ghosh K, Patterson D, Pegan SD. Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency Associated Mutation. Biochemistry. 2012 Jul 19. PMID:22812634 doi:10.1021/bi300796y
