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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; EC 4.3.2.2; Lyase; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: 15 E1|15 37.95 cM
Cellular Component:  cytosol
Molecular Function:  (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity; catalytic activity; lyase activity; N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity
Biological Process:  'de novo' AMP biosynthetic process; aerobic respiration; AMP biosynthetic process; protein tetramerization; purine nucleotide biosynthetic process; purine nucleotide metabolic process; purine ribonucleotide biosynthetic process; response to nutrient; ribonucleoside monophosphate biosynthetic process
Reference #:  P54822 (UniProtKB)
Alt. Names/Synonyms: Adenylosuccinase; Adenylosuccinate lyase; adenylosuccinate lyase 1; Adl; Adsl; ASase; ASL; PUR8
Gene Symbols: Adsl
Molecular weight: 54,866 Da
Basal Isoelectric point: 6.9  Predict pI for various phosphorylation states
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ADSL

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene