Crystal structure of Human Adenylosuccinate Lyase in complex with AMPCrystal structure of Human Adenylosuccinate Lyase in complex with AMP
Structural highlights
2j91 is a 4 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 2j84. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
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.
