2j91
Jump to navigation
Jump to search
Crystal structure of Human Adenylosuccinate Lyase in complex with AMPCrystal structure of Human Adenylosuccinate Lyase in complex with AMP
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 |
|
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCACategories:
- Homo sapiens
- Large Structures
- Arrowsmith C
- Berglund H
- Busam R
- Collins R
- Edwards A
- Ericsson UB
- Flodin S
- Flores A
- Graslund S
- Hallberg BM
- Hammarstrom M
- Hogbom M
- Holmberg Schiavone L
- Johansson I
- Karlberg T
- Kosinska U
- Kotenyova T
- Magnusdottir A
- Moche M
- Nilsson ME
- Nilsson-Ehle P
- Nordlund P
- Nyman T
- Ogg D
- Persson C
- Sagemark J
- Stenmark P
- Sundstrom M
- Thorsell AG
- Uppenberg J
- Uppsten M
- Wallden K
- Weigelt J
- Van Den Berg S