4ffx

{{STRUCTURE_4ffx| PDB=4ffx | SCENE= }}

===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==

[[4ffx]] is a 4 chain structure with sequence from [http://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].

 

<ref group="xtra">PMID:022812634</ref><references group="xtra"/><references/>

[[Category: Calkins, L A.F.]]

[[Category: Capodagli, G C.]]

[[Category: Deaton, M K.]]

[[Category: Ghosh, K.]]

[[Category: Patterson, D.]]

[[Category: Pegan, S D.]]

[[Category: Ray, S P.]]

[[Category: Sawle, L.]]

[[Category: Purine metabolism]]