2vd6: Difference between revisions
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{{STRUCTURE_2vd6| PDB=2vd6 | SCENE= }} | {{STRUCTURE_2vd6| PDB=2vd6 | SCENE= }} | ||
===Human adenylosuccinate lyase in complex with its substrate N6-(1,2- Dicarboxyethyl)-AMP, and its products AMP and fumarate.=== | ===Human adenylosuccinate lyase in complex with its substrate N6-(1,2- Dicarboxyethyl)-AMP, and its products AMP and fumarate.=== | ||
{{ABSTRACT_PUBMED_018469177}} | |||
==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:018469177</ref><references group="xtra"/> | <ref group="xtra">PMID:018469177</ref><references group="xtra"/><references/> | ||
[[Category: Adenylosuccinate lyase]] | [[Category: Adenylosuccinate lyase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 01:24, 25 March 2013
Human adenylosuccinate lyase in complex with its substrate N6-(1,2- Dicarboxyethyl)-AMP, and its products AMP and fumarate.
Template:ABSTRACT PUBMED 018469177
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
2vd6 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Sivendran S, Colman RF. Effect of a new non-cleavable substrate analog on wild-type and serine mutants in the signature sequence of adenylosuccinate lyase of Bacillus subtilis and Homo sapiens. Protein Sci. 2008 Jul;17(7):1162-74. Epub 2008 May 9. PMID:18469177 doi:10.1110/ps.034777.108
Proteopedia Page Contributors and Editors (what is this?)
Categories:
- Adenylosuccinate lyase
- Homo sapiens
- Arrowsmith, C.
- Berg, S Van Den.
- Berglund, H.
- Busam, R.
- Collins, R.
- Dahlgren, L G.
- Edwards, A.
- Flodin, S.
- Flores, A.
- Graslund, S.
- Hallberg, B M.
- Hammarstrom, M.
- Holmberg-Schiavone, L.
- Johansson, I.
- Kallas, A.
- Karlberg, T.
- Kotenyova, T.
- Lehtio, L.
- Moche, M.
- Nilsson, M.
- Nordlund, P.
- Nyman, T.
- Ogg, D.
- Persson, C.
- Sagemark, J.
- Sgc, Structural Genomics Consortium.
- Stenmark, P.
- Sundstrom, M.
- Thorsell, A G.
- Tresaugues, L.
- Weigelt, J.
- Welin, M.
- Epilepsy
- Lyase
- Purine biosynthesis
- Purine metabolism
