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Gene Review

ADSL  -  adenylosuccinate lyase

Homo sapiens

Synonyms: AMPS, ASASE, ASL, ASase, Adenylosuccinase, ...
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Disease relevance of ADSL


Psychiatry related information on ADSL


High impact information on ADSL


Chemical compound and disease context of ADSL


Biological context of ADSL


Anatomical context of ADSL

  • Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme [21].
  • Patients homozygous for one of these mutations, R426H, displayed similarly decreased ADSL activities in their fibroblasts, S-Ado:SAICA riboside ratios of approximately 1 in their cerebrospinal fluid and were profoundly retarded [21].
  • Delta-crystallin, the major soluble protein component in the avian eye lens, is homologous to argininosuccinate lyase (ASL) [22].
  • 8. Of the two PKA inhibitors tested, H-89 (10 microM) and Rp cyclic AMPS (10 microM), the more effective inhibitor of PGE2-induced inhibition of neutrophil superoxide anion generation was H-89 (EC50s for PGE2 were 0.36 +/- 0.1 and > 10 microM, respectively) [23].
  • However, AMPS derivatization unexpectedly increases the recruitment of macrophages to implanted material and promotes the formation of adherent sleeve thrombi on central venous catheters indwelling in non-anticoagulated canine femoral veins [17].

Associations of ADSL with chemical compounds

  • Adenylosuccinate lyase (ADSL; also called "adenylosuccinase") catalyzes two steps in the synthesis of purine nucleotides: (1) the conversion of succinylaminoimidazolecarboxamide ribotide into aminoimidazolecarboxamide ribotide and (2) the conversion of adenylosuccinate into adenosine monophosphate [13].
  • These results suggest that, in some cases, the genetic lesion of ADSL determines the ratio of its activities with S-AMP versus SAICAR, which in turn defines the S-Ado:SAICA riboside ratio and the patients' mental status [21].
  • A point mutation in the ADSL gene, resulting in a predicted serine-to-proline substitution and conferring structural instability to the mutant enzyme, has been reported previously in 3 affected siblings [7].
  • Such studies require availability of both ADSL substrates, 5-amino-4-imidazole-N-succinocarboxamide ribotide (SAICAR) and succinyladenosine 5'-monophosphate (SAMP) and their dephosphorylated products in sufficient amounts and purity [2].
  • Although both human and B. subtilis enzymes normally have Asp at position 87 (or 69), the B. subtilis ASL has Ile and Asp at 62 and 65, respectively, whereas human ASL has Glu and Arg at the equivalent positions [3].

Enzymatic interactions of ADSL


Other interactions of ADSL


Analytical, diagnostic and therapeutic context of ADSL


  1. Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies. Fairbanks, L.D., Harris, J.C., Duley, J.A., Simmonds, H.A. Nucleosides Nucleotides Nucleic Acids (2004) [Pubmed]
  2. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. Zikánová, M., Krijt, J., Hartmannová, H., Kmoch, S. J. Inherit. Metab. Dis. (2005) [Pubmed]
  3. Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL. Sivendran, S., Patterson, D., Spiegel, E., McGown, I., Cowley, D., Colman, R.F. J. Biol. Chem. (2004) [Pubmed]
  4. Induction of deletion and insertion mutations by 9-aminoacridine. An in vitro model. Conrad, M., Topal, M.D. J. Biol. Chem. (1986) [Pubmed]
  5. The crystal structure of adenylosuccinate lyase from Pyrobaculum aerophilum reveals an intracellular protein with three disulfide bonds. Toth, E.A., Worby, C., Dixon, J.E., Goedken, E.R., Marqusee, S., Yeates, T.O. J. Mol. Biol. (2000) [Pubmed]
  6. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Edery, P., Chabrier, S., Ceballos-Picot, I., Marie, S., Vincent, M.F., Tardieu, M. Am. J. Med. Genet. A (2003) [Pubmed]
  7. Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation. Fon, E.A., Sarrazin, J., Meunier, C., Alarcia, J., Shevell, M.I., Philippe, A., Leboyer, M., Rouleau, G.A. Am. J. Med. Genet. (1995) [Pubmed]
  8. Assessment of motor and process skills reflects brain-injured patients' ability to resume independent living better than neuropsychological tests. Lindén, A., Boschian, K., Eker, C., Schalén, W., Nordström, C.H. Acta neurologica Scandinavica. (2005) [Pubmed]
  9. "Patterns of comorbidity" among DSM-III-R and ICD-10 personality disorders as observed with a new inventory for the assessment of personality disorders. Herpertz, S., Steinmeyer, E.M., Sass, H. European archives of psychiatry and clinical neuroscience. (1994) [Pubmed]
  10. Effects of parental deafness and early exposure to manual communication on the cognitive skills, English language skill, and field independence of young deaf adults. Parasnis, I. Journal of speech and hearing research. (1983) [Pubmed]
  11. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Stone, R.L., Aimi, J., Barshop, B.A., Jaeken, J., Van den Berghe, G., Zalkin, H., Dixon, J.E. Nat. Genet. (1992) [Pubmed]
  12. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Jaeken, J., Van den Berghe, G. Lancet (1984) [Pubmed]
  13. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. Marie, S., Race, V., Nassogne, M.C., Vincent, M.F., Van den Berghe, G. Am. J. Hum. Genet. (2002) [Pubmed]
  14. Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role. Palenchar, J.B., Colman, R.F. Biochemistry (2003) [Pubmed]
  15. Gln212, Asn270, and Arg301 are critical for catalysis by adenylosuccinate lyase from Bacillus subtilis. Segall, M.L., Colman, R.F. Biochemistry (2004) [Pubmed]
  16. The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies. Palenchar, J.B., Crocco, J.M., Colman, R.F. Protein Sci. (2003) [Pubmed]
  17. Biocompatibility of sulphonated polyurethane surfaces. Keogh, J.R., Wolf, M.F., Overend, M.E., Tang, L., Eaton, J.W. Biomaterials (1996) [Pubmed]
  18. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Marie, S., Cuppens, H., Heuterspreute, M., Jaspers, M., Tola, E.Z., Gu, X.X., Legius, E., Vincent, M.F., Jaeken, J., Cassiman, J.J., Van den Berghe, G. Hum. Mutat. (1999) [Pubmed]
  19. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. Fon, E.A., Demczuk, S., Delattre, O., Thomas, G., Rouleau, G.A. Cytogenet. Cell Genet. (1993) [Pubmed]
  20. Mapping of human chromosome 22 with a panel of somatic cell hybrids. Delattre, O., Azambuja, C.J., Aurias, A., Zucman, J., Peter, M., Zhang, F., Hors-Cayla, M.C., Rouleau, G., Thomas, G. Genomics (1991) [Pubmed]
  21. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Race, V., Marie, S., Vincent, M.F., Van den Berghe, G. Hum. Mol. Genet. (2000) [Pubmed]
  22. Recovery of argininosuccinate lyase activity in duck delta1 crystallin. Tsai, M., Koo, J., Howell, P.L. Biochemistry (2005) [Pubmed]
  23. Investigation of the inhibitory effects of PGE2 and selective EP agonists on chemotaxis of human neutrophils. Armstrong, R.A. Br. J. Pharmacol. (1995) [Pubmed]
  24. Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. Van den Bergh, F., Vincent, M.F., Jaeken, J., Van den Berghe, G. J. Inherit. Metab. Dis. (1993) [Pubmed]
  25. Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia. Severinsen, J.E., Als, T.D., Binderup, H., Kruse, T.A., Wang, A.G., Vang, M., Muir, W.J., Blackwood, D.H., Mors, O., Børglum, A.D. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2006) [Pubmed]
  26. The purine nucleotide cycle and its molecular defects. Van den Berghe, G., Bontemps, F., Vincent, M.F., Van den Bergh, F. Prog. Neurobiol. (1992) [Pubmed]
  27. Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders. Jellum, E., Thorsrud, A.K., Time, E. J. Chromatogr. (1991) [Pubmed]
  28. User satisfaction with rehabilitation services delivered using Internet video. Hughes, G., Hudgins, B., Hooper, J.E., Wallace, B. Journal of telemedicine and telecare. (2003) [Pubmed]
  29. Growth factor-regulated expression of enzymes involved in nucleotide biosynthesis: a novel mechanism of growth factor action. Gassmann, M.G., Stanzel, A., Werner, S. Oncogene (1999) [Pubmed]
  30. Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. Gross, M., Gathof, B.S., Kölle, P., Gresser, U. Electrophoresis (1995) [Pubmed]
  31. LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants. Alsmadi, O., Alkayal, F., Al-Sayed, M., Rashed, M.S., Imtiaz, F., Meyer, B.F. Clin. Chem. (2006) [Pubmed]
  32. Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography. De Volder, A.G., Jaeken, J., Van den Berghe, G., Bol, A., Michel, C., Cogneau, M., Goffinet, A.M. Pediatr. Res. (1988) [Pubmed]
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