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Protein Page:
ADSL (human)

Overview
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: 22q13.2
Cellular Component: cytosol
Molecular Function: adenylosuccinate lyase activity
Biological Process: AMP biosynthetic process; protein tetramerization; purine nucleotide biosynthetic process; purine ribonucleoside monophosphate biosynthetic process
Disease: Adenylosuccinase Deficiency
Reference #:  P30566 (UniProtKB)
Alt. Names/Synonyms: Adenylosuccinase; Adenylosuccinate lyase; ADSL; AMPS; ASase; ASL; PUR8
Gene Symbols: ADSL
Molecular weight: 54,889 Da
Basal Isoelectric point: 6.68  Predict pI for various phosphorylation states
Select Structure to View Below

ADSL

Protein Structure Not Found.
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