Adenylosuccinate lyase catalyses two steps in the synthesis of purine nucleotides: the conversion of succinylaminoimidazole-carboxamide ribotide into aminoimidazole-carboxamide ribotide (the fifth step of de novo IMP biosynthesis); the formation of adenosine monophosphate (AMP) from adenylosuccinate (the final step in the synthesis of AMP from IMP). This entry represents the C-terminal, seven alpha-helical, domain of adenylosuccinate lyase.
Adenylosuccinate lyase catalyses two steps in the synthesis of purine nucleotides: the conversion of succinylaminoimidazole-carboxamide ribotide into aminoimidazole-carboxamide ribotide (the fifth step of de novo IMP biosynthesis); the formation of adenosine monophosphate (AMP) from adenylosuccinate (the final step in the synthesis of AMP from IMP) [ (PUBMED:17485188) ].
This entry represents the seven alpha-helical, C-terminal domain of adenylosuccinate lyase [ (PUBMED:9274883) ]. It is also found in other enzymes, like in 3-carboxy-cis,cis-muconate cycloisomerase.
Family alignment:
There are 18432 ADSL_C domains in 18430 proteins in SMART's nrdb database.
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Evolution (species in which this domain is found)
Taxonomic distribution of proteins containing ADSL_C domain.
This tree includes only several representative species. The complete taxonomic breakdown of all proteins with ADSL_C domain is also avaliable.
Click on the protein counts, or double click on taxonomic names to display all proteins containing ADSL_C domain in the selected taxonomic class.
Adenylosuccinate lyase deficiency: the first identified polish patient.
Brain Dev. 2007; 29: 600-2
Display abstract
Adenylosuccinate lyase (ADSL) deficiency is a rare disease of de novopurine synthesis. The main symptoms are psychomotor retardation, epilepsy,autistic features, occasionally associated with muscular hypotonia.Diagnosis is made by detection of abnormal purine metabolites(succinyladenosine - S-Ado and succinylaminoimidazole carboxamide riboside- SAICAr) in body fluids. The severity of the clinical features correlateswith low S-Ado/SAICAr ratio. We report clinical, biochemical and brain MRIfindings of a female infant with severe early epilepsy and hypotonia, whodied at the age of 10 weeks.
