AAC21560.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
54,889 Da
NCBI Official Full Name
adenylosuccinate lyase
NCBI Official Synonym Full Names
adenylosuccinate lyase
NCBI Protein Information
adenylosuccinate lyase; adenylosuccinase
UniProt Protein Name
Adenylosuccinate lyase
UniProt Synonym Protein Names
Adenylosuccinase
UniProt Synonym Gene Names
UniProt Entry Name
PUR8_HUMAN
NCBI Summary for ADSL
Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It 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. Adenylosuccinase 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]
UniProt Comments for ADSL
ADSL: Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency). 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. Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Nucleotide Metabolism - purine; Lyase; EC 4.3.2.2
Chromosomal Location of Human Ortholog: 22q13.2
Cellular Component: cytosol
Molecular Function: adenylosuccinate lyase activity
Biological Process: AMP biosynthetic process; purine ribonucleoside monophosphate biosynthetic process; metabolic process; nucleobase, nucleoside and nucleotide metabolic process; purine nucleotide biosynthetic process; protein tetramerization; purine base metabolic process; 'de novo' IMP biosynthetic process
Disease: Adenylosuccinase Deficiency
Research Articles on ADSL
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Products associated with ADSL elisa kit
Pathways associated with ADSL elisa kit
Products by Pathway |
Pathway Diagram |
Adenine Ribonucleotide Biosynthesis, IMP => ADP,ATP Pathway antibodies |
Adenine Ribonucleotide Biosynthesis, IMP => ADP,ATP Pathway Diagram |
Adenine Ribonucleotide Biosynthesis, IMP => ADP,ATP Pathway antibodies |
Adenine Ribonucleotide Biosynthesis, IMP => ADP,ATP Pathway Diagram |
Alanine, Aspartate And Glutamate Metabolism Pathway antibodies |
Alanine, Aspartate And Glutamate Metabolism Pathway Diagram |
Alanine, Aspartate And Glutamate Metabolism Pathway antibodies |
Alanine, Aspartate And Glutamate Metabolism Pathway Diagram |
Inosine Monophosphate Biosynthesis, PRPP + Glutamine => IMP Pathway antibodies |
Inosine Monophosphate Biosynthesis, PRPP + Glutamine => IMP Pathway Diagram |
Inosine Monophosphate Biosynthesis, PRPP + Glutamine => IMP Pathway antibodies |
Inosine Monophosphate Biosynthesis, PRPP + Glutamine => IMP Pathway Diagram |
Metabolism Pathway antibodies |
Metabolism Pathway Diagram |
Metabolism Of Nucleotides Pathway antibodies |
Metabolism Of Nucleotides Pathway Diagram |
Nucleotide Metabolism Pathway antibodies |
Nucleotide Metabolism Pathway Diagram |
Purine Metabolism Pathway antibodies |
Purine Metabolism Pathway Diagram |
Diseases associated with ADSL elisa kit
Organs/Tissues associated with ADSL elisa kit
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