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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.
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. FunctionEvolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See Also |
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OCACategories:
- Homo sapiens
- Large Structures
- Arrowsmith C
- Berglund H
- Busam R
- Collins R
- Dahlgren LG
- Edwards A
- Flodin S
- Flores A
- Graslund S
- Hallberg BM
- 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
- Stenmark P
- Sundstrom M
- Thorsell AG
- Tresaugues L
- Weigelt J
- Welin M
- Van den Berg S