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ADSL / Adenylosuccinate Lyase Protein, Antibody, ELISA Kit, cDNA Clone

ADSL / Adenylosuccinate Lyase Related Areas

ADSL / Adenylosuccinate Lyase Related Pathways

ADSL / Adenylosuccinate Lyase Related Product

    ADSL / Adenylosuccinate Lyase Summary & Protein Information

    ADSL / Adenylosuccinate Lyase Background

    Gene Summary: Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. ADSL catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylsuccinate lyase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    General information above from NCBI
    Catalytic activity: N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP.
    (S)-2-(5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1- (5-phospho-D-ribosyl)imidazole-4-carboxamide.
    Enzyme regulation: The enzyme reaction kinetics indicate cooperativity between subunits.
    Subunit structure: Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site.
    Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
    Involvement in disease: Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily.
    General information above from UniProt

    Adenylosuccinate lyase, also known as adenylosuccinase, ADSL or ASL, is an enzyme implicated in the reaction of adenylosuccinat converting to AMP and fumarate as part of the purine nucleotide cycle. The two substates of adenylosuccinate lyase (ADSL) are dephosphorylated derivatives of SAICA ribotide (SAICAR) and adenylosuccinate (S-AMP), which catalyzes an important reaction in the de novo pathway of purine biosynthesis. ADSL catalyzes two distinct reactions in the synthesis of purine nucleotides, both of which involve the _-elimination of fumarate to produce either aminoimidazole carboxamide ribotide from SAICAR or AMP from S-AMP. The Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder characterized by the present of SAICA riboside and succinyladenosine (S-Ado). ADSL defect in different patients is often caused by different mutations to the enzyme.

    ADSL / Adenylosuccinate Lyase Alternative Name

    AMPS,ASASE,ASL,RP5-1042K10.8, [human]
    ASase,ASL,OTTMUSP00000050230,OTTMUSP00000050233,OTTMUSP00000050234, [mouse]

    ADSL / Adenylosuccinate Lyase Related Studies

  • Nassogne M, et al. (2000) Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. Brain and development. 22 (6): 383-6.
  • Sivendran S, et al. (2004) Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL. J Biol Chem. 279 (51): 53789-97.
  • Lee TT, et al. (1999) His68 and His141 are critical contributors to the intersubunit catalytic site of adenylosuccinate lyase of Bacillus subtilis. Biochemistry. 38 (1): 22-32.
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